{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274281", "communityStandardTitle": [ "NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187005[alleleid]", "alleleId": 187005, "preferredName": "NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189025", "RCV": [ "RCV000169414", "RCV000723388" ], "variationId": 189025 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78084636G>A?assembly=hg19", "id": "chr17:g.78084636G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80110837G>A?assembly=hg38", "id": "chr17:g.80110837G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/140826989", "rs": 140826989 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78084636-G-A?dataset=gnomad_r2_1", "id": "17-78084636-G-A", "variant": "17:78084636 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80110837-G-A?dataset=gnomad_r3", "id": "17-80110837-G-A", "variant": "17:80110837 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80110837-G-A?dataset=gnomad_r4", "id": "17-80110837-G-A", "variant": "17:80110837 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 80110837, "referenceAllele": "G", "start": 80110836 } ], "hgvs": [ "NC_000017.11:g.80110837G>A", "CM000679.2:g.80110837G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78084636, "referenceAllele": "G", "start": 78084635 } ], "hgvs": [ "NC_000017.10:g.78084636G>A", "CM000679.1:g.78084636G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75699231, "referenceAllele": "G", "start": 75699230 } ], "hgvs": [ "NC_000017.9:g.75699231G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 14282, "referenceAllele": "G", "start": 14281 } ], "hgvs": [ "NG_009822.1:g.14282G>A", "LRG_673:g.14282G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001659" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000570803.6:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000460543.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000460543.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914319" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "G", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000572080.2:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000459972.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000459972.2:p.Trp516_Ala630delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914321" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "G", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000577106.6:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000458306.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000458306.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914323" }, { "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.8:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744924", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.1548G>A" }, "RefSeq": { "hgvs": "NM_000152.5:c.1548G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Trp516Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Trp516Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.7:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255143" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000390015.7:c.1548G>A" ], "proteinEffect": { "hgvs": "ENSP00000374665.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000374665.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274344" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.3:c.1548G>A", "LRG_673t1:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006214" }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1730, "referenceAllele": "G", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.1:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010088" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.1:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010089" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.1:c.1548G>A" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257250.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061613" }, { "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "G", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.3:c.1548G>A" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257251.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061614" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1945, "referenceAllele": "G", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.4:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510756" }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.2:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511218" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1680, "referenceAllele": "G", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.2:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511219" }, { "coordinates": [ { "allele": "A", "end": 1746, "referenceAllele": "G", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.2:c.1548G>A" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257250.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534619" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "G", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.1548G>A" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257251.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.1548G>A" }, "RefSeq": { "hgvs": "NM_000152.5:c.1548G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Trp516Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Trp516Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1705, "referenceAllele": "G", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1625, "referenceAllele": "G", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }