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"XP_011527364.1:p.Cys273_Ser533delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTrpPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549357" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "XM_011529063.2:c.819C>A" ], "proteinEffect": { "hgvs": "XP_011527365.1:p.Cys273Ter", "hgvsWellDefined": "XP_011527365.1:p.Cys273_Ala532delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleAspGlyLysIleHisProTyrProValGlnProGlySerGlnLysThrArgThrSerProThrAlaPheGlnProIleAlaLeuProAlaGlyAspArgSerSerTrpSerTrpGluAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549358" }, { "coordinates": [ { "allele": "A", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "XM_011529064.2:c.819C>A" ], "proteinEffect": { "hgvs": "XP_011527366.1:p.Cys273Ter", "hgvsWellDefined": "XP_011527366.1:p.Cys273_His507delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549359" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "XM_011529065.2:c.819C>A" ], "proteinEffect": { "hgvs": "XP_011527367.1:p.Cys273Ter", "hgvsWellDefined": "XP_011527367.1:p.Cys273_Pro494delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549360" }, { "coordinates": [ { "allele": "A", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "XM_017028087.2:c.756C>A" ], "proteinEffect": { "hgvs": "XP_016883576.1:p.Cys252Ter", "hgvsWellDefined": "XP_016883576.1:p.Cys252_Pro473delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577915" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "XR_936641.2:n.942C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611370" }, { "@id": "http://reg.genome.network/allele/PA347711", "coordinates": [ { "allele": "A", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN013444", "geneNCBI_id": 81031, "geneSymbol": "SLC2A10", "hgvs": [ "NM_030777.4:c.756C>A" ], "proteinEffect": { "hgvs": "NP_110404.1:p.Cys252Ter", "hgvsWellDefined": "NP_110404.1:p.Cys252_Ser541delinsTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671005", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359271.4:c.756C>A" }, "RefSeq": { "hgvs": "NM_030777.4:c.756C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352216.2:p.Cys252Ter" }, "RefSeq": { "hgvs": "NP_110404.1:p.Cys252Ter" } } } } ], "type": "nucleotide" }