{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1563633", "communityStandardTitle": [ "NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1856821[alleleid]", "alleleId": 1856821, "preferredName": "NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1799530", "RCV": [ "RCV002444374", "RCV003561048" ], "variationId": 1799530 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-26697477-G-C", "id": "2-26697477-G-C", "variant": "2:26697477 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26697477G>C?assembly=hg19", "id": "chr2:g.26697477G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26474609G>C?assembly=hg38", "id": "chr2:g.26474609G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766819324", "rs": 766819324 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26697477-G-C?dataset=gnomad_r2_1", "id": "2-26697477-G-C", "variant": "2:26697477 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26474609-G-C?dataset=gnomad_r4", "id": "2-26474609-G-C", "variant": "2:26474609 G / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 26474609, "referenceAllele": "G", "start": 26474608 } ], "hgvs": [ "NC_000002.12:g.26474609G>C", "CM000664.2:g.26474609G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 26697477, "referenceAllele": "G", "start": 26697476 } ], "hgvs": [ "NC_000002.11:g.26697477G>C", "CM000664.1:g.26697477G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 26550981, "referenceAllele": "G", "start": 26550980 } ], "hgvs": [ "NC_000002.10:g.26550981G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 89090, "referenceAllele": "C", "start": 89089 } ], "hgvs": [ "NG_009937.1:g.89090C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001703" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.7:c.3192C>G" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Tyr1064Ter", "hgvsWellDefined": "ENSP00000272371.2:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743242", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.3192C>G" }, "RefSeq": { "hgvs": "NM_194248.3:c.3192C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Tyr1064Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Tyr1064Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.8:c.951C>G" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000344521.3:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.951C>G" }, "RefSeq": { "hgvs": "NM_194323.3:c.951C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Tyr317Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Tyr317Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.8:c.951C>G" ], "proteinEffect": { "hgvs": "ENSP00000383906.4:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000383906.4:p.Tyr317_Ala1250delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754006" }, { "coordinates": [ { "allele": "G", "end": 3319, "referenceAllele": "C", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.6:c.3192C>G" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Tyr1064Ter", "hgvsWellDefined": "ENSP00000272371.2:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252367" }, { "coordinates": [ { "allele": "G", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000338581.10:c.951C>G" ], "proteinEffect": { "hgvs": "ENSP00000345137.6:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000345137.6:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260687" }, { "coordinates": [ { "allele": "G", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.7:c.951C>G" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000344521.3:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260908" }, { "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.7:c.1122C>G" ], "proteinEffect": { "hgvs": "ENSP00000383906.3:p.Tyr374Ter", "hgvsWellDefined": "ENSP00000383906.3:p.Tyr374_Ala1307delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279510" }, { "coordinates": [ { "allele": "G", "end": 3299, "referenceAllele": "C", "start": 3298 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000403946.7:c.3192C>G" ], "proteinEffect": { "hgvs": "ENSP00000385255.3:p.Tyr1064Ter", "hgvsWellDefined": "ENSP00000385255.3:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279939" }, { "@id": "http://reg.genome.network/allele/PA2826696860", "coordinates": [ { "allele": "G", "end": 3319, "referenceAllele": "C", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.1:c.3192C>G" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Tyr1064Ter", "hgvsWellDefined": "NP_001274418.1:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023354" }, { "@id": "http://reg.genome.network/allele/PA2829570163", "coordinates": [ { "allele": "G", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.3:c.951C>G" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Tyr317Ter", "hgvsWellDefined": "NP_004793.2:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029949" }, { "@id": "http://reg.genome.network/allele/PA2830421246", "coordinates": [ { "allele": "G", "end": 3319, "referenceAllele": "C", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.2:c.3192C>G" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Tyr1064Ter", "hgvsWellDefined": "NP_919224.1:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044301" }, { "@id": "http://reg.genome.network/allele/PA2580554541", "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.2:c.1122C>G" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Tyr374Ter", "hgvsWellDefined": "NP_919303.1:p.Tyr374_Ala1307delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044339" }, { "@id": "http://reg.genome.network/allele/PA2830424521", "coordinates": [ { "allele": "G", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.2:c.951C>G" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Tyr317Ter", "hgvsWellDefined": "NP_919304.1:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044340" }, { "coordinates": [ { "allele": "G", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_005264644.2:c.3237C>G" ], "proteinEffect": { "hgvs": "XP_005264701.1:p.Tyr1079Ter", "hgvsWellDefined": "XP_005264701.1:p.Tyr1079_Ala1992delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064327" }, { "coordinates": [ { "allele": "G", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_011533185.1:c.3237C>G" ], "proteinEffect": { "hgvs": "XP_011531487.1:p.Tyr1079Ter", "hgvsWellDefined": "XP_011531487.1:p.Tyr1079_Ala2012delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100210" }, { "coordinates": [ { "allele": "G", "end": 3192, "referenceAllele": "C", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_017005338.1:c.3192C>G" ], "proteinEffect": { "hgvs": "XP_016860827.1:p.Tyr1064Ter", "hgvsWellDefined": "XP_016860827.1:p.Tyr1064_Ala1977delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826696860", "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.3192C>G" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Tyr1064Ter", "hgvsWellDefined": "NP_001274418.1:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682405" }, { "@id": "http://reg.genome.network/allele/PA2829570163", "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.4:c.951C>G" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Tyr317Ter", "hgvsWellDefined": "NP_004793.2:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696245" }, { "@id": "http://reg.genome.network/allele/PA2830421246", "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.3:c.3192C>G" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Tyr1064Ter", "hgvsWellDefined": "NP_919224.1:p.Tyr1064_Ala1997delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.3192C>G" }, "RefSeq": { "hgvs": "NM_194248.3:c.3192C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Tyr1064Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Tyr1064Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580554541", "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.3:c.1122C>G" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Tyr374Ter", "hgvsWellDefined": "NP_919303.1:p.Tyr374_Ala1307delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrValArgLeuLeuArgArgCysArgValLeuCysAsnGlyGlySerSerSerHisSerThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701212" }, { "@id": "http://reg.genome.network/allele/PA2830424521", "coordinates": [ { "allele": "G", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.951C>G" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Tyr317Ter", "hgvsWellDefined": "NP_919304.1:p.Tyr317_Ala1230delinsCysProProArgPheProProGlnLeuGluTyrTyrGlnIleTyrArgGlyAsnAlaThrAlaGlyAspLeuLeuAlaAlaPheGluLeuLeuGlnIleGlyProAlaGlyLysAlaAspLeuProProIleAsnGlyProValAspValAspArgGlyProIleMetProValProMetGlyIleArgProValLeuSerLysTyrArgValGluValLeuPheTrpGlyLeuArgAspLeuLysArgValAsnLeuAlaGlnValAspArgProArgValAspIleGluCysAlaGlyLysGlyValGlnSerSerLeuIleHisAsnTyrLysLysAsnProAsnPheAsnThrLeuValLysTrpPheGluValAspLeuProGluAsnGluLeuLeuHisProProLeuAsnIleArgValValAspCysArgAlaPheGlyArgTyrThrLeuValGlySerHisAlaValSerSerLeuArgArgPheIleTyrArgProProAspArgSerAlaProSerTrpAsnThrThrGlyGluValValValThrMetGluProGluValProIleLysLysLeuGluThrMetValLysLeuAspAlaThrSerGluAlaValValLysValAspValAlaGluGluGluLysGluLysLysLysLysLysLysGlyThrAlaGluGluProGluGluGluGluProAspGluSerMetLeuAspTrpTrpSerLysTyrPheAlaSerIleAspThrMetLysGluGlnLeuArgGlnGlnGluProSerGlyIleAspLeuGluGluLysGluGluValAspAsnThrGluGlyLeuLysGlySerMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.951C>G" }, "RefSeq": { "hgvs": "NM_194323.3:c.951C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Tyr317Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Tyr317Ter" } } } } ], "type": "nucleotide" }