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"http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.2242G>T" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Glu748Ter", "hgvsWellDefined": "XP_005257251.1:p.Glu748_Cys952delinsAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA645481951", "coordinates": [ { "allele": "T", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.2242G>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Glu748Ter", "hgvsWellDefined": "NP_000143.2:p.Glu748_Cys952delinsAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.2242G>T" }, "RefSeq": { "hgvs": "NM_000152.5:c.2242G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Glu748Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Glu748Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825462844", "coordinates": [ { "allele": "T", "end": 2399, "referenceAllele": "G", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.2242G>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Glu748Ter", "hgvsWellDefined": "NP_001073271.1:p.Glu748_Cys952delinsAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA915964869", "coordinates": [ { "allele": "T", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.2242G>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Glu748Ter", "hgvsWellDefined": "NP_001073272.1:p.Glu748_Cys952delinsAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }