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"XP_016860827.1:p.Tyr1802_Ala1977delinsLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826697609", "coordinates": [ { "allele": "G", "end": 5651, "referenceAllele": "C", "start": 5650 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.5466C>G" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Tyr1822Ter", "hgvsWellDefined": 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"NP_919224.1:p.Tyr1822_Ala1997delinsLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.5466C>G" }, "RefSeq": { "hgvs": "NM_194248.3:c.5466C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Tyr1822Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Tyr1822Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830424214", 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"coordinates": [ { "allele": "G", "end": 3473, "referenceAllele": "C", "start": 3472 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.3165C>G" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Tyr1055Ter", "hgvsWellDefined": "NP_919304.1:p.Tyr1055_Ala1230delinsLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.3165C>G" }, "RefSeq": { "hgvs": "NM_194323.3:c.3165C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Tyr1055Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Tyr1055Ter" } } } } ], "type": "nucleotide" }