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"XP_005257251.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061614" }, { "@id": "http://reg.genome.network/allele/PA2825066123", "coordinates": [ { "allele": "A", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.4:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Cys647Ter", "hgvsWellDefined": "NP_000143.2:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510756" }, { "@id": "http://reg.genome.network/allele/PA2825462337", "coordinates": [ { "allele": "A", "end": 2153, "referenceAllele": "C", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.2:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Cys647Ter", "hgvsWellDefined": "NP_001073271.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511218" }, { "@id": "http://reg.genome.network/allele/PA915964782", "coordinates": [ { "allele": "A", "end": 2073, "referenceAllele": "C", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.2:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Cys647Ter", "hgvsWellDefined": "NP_001073272.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511219" }, { "coordinates": [ { "allele": "A", "end": 2139, "referenceAllele": "C", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.2:c.1941C>A" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Cys647Ter", "hgvsWellDefined": "XP_005257250.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534619" }, { "coordinates": [ { "allele": "A", "end": 2179, "referenceAllele": "C", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.1941C>A" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Cys647Ter", "hgvsWellDefined": "XP_005257251.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA2825066123", "coordinates": [ { "allele": "A", "end": 2283, "referenceAllele": "C", "start": 2282 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Cys647Ter", "hgvsWellDefined": "NP_000143.2:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.1941C>A" }, "RefSeq": { "hgvs": "NM_000152.5:c.1941C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Cys647Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Cys647Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825462337", "coordinates": [ { "allele": "A", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Cys647Ter", "hgvsWellDefined": "NP_001073271.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA915964782", "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "C", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.1941C>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Cys647Ter", "hgvsWellDefined": "NP_001073272.1:p.Cys647_Cys952delinsGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }