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"XP_024304678.1:p.Glu442_Ala816delinsIleMetArgMetPhePheAsnGlyArgTyrIleLeuLeuLeuMetGlyLeuPheSerValTyrThrGlyLeuIleTyrAsnAspCysPheSerLysSerValAsnLeuPheGlySerGlyTrpAsnValSerAlaMetTyrSerSerSerHisProProAlaGluHisLysLysMetValLeuTrpAsnAspSerValValArgHisAsnSerIleLeuGlnLeuAspProSerIleProGlyValPheArgGlyProTyrProLeuGlyIleAspProIleTrpAsnLeuAlaThrAsnArgLeuThrPheLeuAsnSerPheLysMetLysMetSerValIleLeuGlyIleIleHisMetThrPheGlyValIleLeuGlyIlePheAsnHisLeuHisPheArgLysLysPheAsnIleTyrLeuValSerIleProGluLeuLeuPheMetLeuCysIlePheGlyTyrLeuIlePheMetIlePheTyrLysTrpLeuValPheSerAlaGluThrSerArgValAlaProSerIleLeuIleGluPheIleAsnMetPheLeuPheProAlaSerLysThrSerGlyLeuTyrThrGlyGlnSerGlyTyrThrLeuIleArgLysAspSerGluGluGluValSerLeuLeuGlySerGlnAspIleGluGluGlyAsnHisGlnValGluAspGlyCysArgGluMetAlaCysGluGluPheAsnPheGlyGluIleLeuMetThrGlnValIleHisSerIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerAspValLeuTrpAlaMetLeuMetArgValGlyLeuArgValAspThrThrTyrGlyValLeuLeuLeuLeuProValIleAlaLeuPheAlaValLeuThrIlePheIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaIleArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAlaGlyThrLysPheValProPheSerPheSerLeuLeuSerSerLysPheAsnAsnAspAspSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582475" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN018481", "geneNCBI_id": 23545, "geneSymbol": "ATP6V0A2", "hgvs": [ "XM_024448911.1:c.811G>T" ], "proteinEffect": { "hgvs": "XP_024304679.1:p.Glu271Ter", "hgvsWellDefined": "XP_024304679.1:p.Glu271_Ala685delinsIleMetArgMetPhePheAsnGlyArgTyrIleLeuLeuLeuMetGlyLeuPheSerValTyrThrGlyLeuIleTyrAsnAspCysPheSerLysSerValAsnLeuPheGlySerGlyTrpAsnValSerAlaMetTyrSerSerSerHisProProAlaGluHisLysLysMetValLeuTrpAsnAspSerValValArgHisAsnSerIleLeuGlnLeuAspProSerIleProGlyValPheArgGlyProTyrProLeuGlyIleAspProIleTrpAsnLeuAlaThrAsnArgLeuThrPheLeuAsnSerPheLysMetLysMetSerValIleLeuGlyIleIleHisMetThrPheGlyValIleLeuGlyIlePheAsnHisLeuHisPheArgLysLysPheAsnIleTyrLeuValSerIleProGluLeuLeuPheMetLeuCysIlePheGlyTyrLeuIlePheMetIlePheTyrLysTrpLeuValPheSerAlaGluThrSerArgValAlaProSerIleLeuIleGluPheIleAsnMetPheLeuPheProAlaSerLysThrSerGlyLeuTyrThrGlyGlnGluTyrValGlnArgValLeuLeuValValThrAlaLeuSerValProValLeuPheLeuGlyLysProLeuPheLeuLeuTrpLeuHisAsnGlyArgSerCysPheGlyValAsnArgSerGlyTyrThrLeuIleArgLysAspSerGluGluGluValSerLeuLeuGlySerGlnAspIleGluGluGlyAsnHisGlnValGluAspGlyCysArgGluMetAlaCysGluGluPheAsnPheGlyGluIleLeuMetThrGlnValIleHisSerIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerAspValLeuTrpAlaMetLeuMetArgValGlyLeuArgValAspThrThrTyrGlyValLeuLeuLeuLeuProValIleAlaLeuPheAlaValLeuThrIlePheIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaIleArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAlaGlyThrLysPheValProPheSerPheSerLeuLeuSerSerLysPheAsnAsnAspAspSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582476" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN018481", "geneNCBI_id": 23545, "geneSymbol": "ATP6V0A2", "hgvs": [ "XM_024448912.1:c.502G>T" ], "proteinEffect": { "hgvs": "XP_024304680.1:p.Glu168Ter", "hgvsWellDefined": "XP_024304680.1:p.Glu168_Ala582delinsIleMetArgMetPhePheAsnGlyArgTyrIleLeuLeuLeuMetGlyLeuPheSerValTyrThrGlyLeuIleTyrAsnAspCysPheSerLysSerValAsnLeuPheGlySerGlyTrpAsnValSerAlaMetTyrSerSerSerHisProProAlaGluHisLysLysMetValLeuTrpAsnAspSerValValArgHisAsnSerIleLeuGlnLeuAspProSerIleProGlyValPheArgGlyProTyrProLeuGlyIleAspProIleTrpAsnLeuAlaThrAsnArgLeuThrPheLeuAsnSerPheLysMetLysMetSerValIleLeuGlyIleIleHisMetThrPheGlyValIleLeuGlyIlePheAsnHisLeuHisPheArgLysLysPheAsnIleTyrLeuValSerIleProGluLeuLeuPheMetLeuCysIlePheGlyTyrLeuIlePheMetIlePheTyrLysTrpLeuValPheSerAlaGluThrSerArgValAlaProSerIleLeuIleGluPheIleAsnMetPheLeuPheProAlaSerLysThrSerGlyLeuTyrThrGlyGlnGluTyrValGlnArgValLeuLeuValValThrAlaLeuSerValProValLeuPheLeuGlyLysProLeuPheLeuLeuTrpLeuHisAsnGlyArgSerCysPheGlyValAsnArgSerGlyTyrThrLeuIleArgLysAspSerGluGluGluValSerLeuLeuGlySerGlnAspIleGluGluGlyAsnHisGlnValGluAspGlyCysArgGluMetAlaCysGluGluPheAsnPheGlyGluIleLeuMetThrGlnValIleHisSerIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerAspValLeuTrpAlaMetLeuMetArgValGlyLeuArgValAspThrThrTyrGlyValLeuLeuLeuLeuProValIleAlaLeuPheAlaValLeuThrIlePheIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaIleArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAlaGlyThrLysPheValProPheSerPheSerLeuLeuSerSerLysPheAsnAsnAspAspSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582477" }, { "@id": "http://reg.genome.network/allele/PA342131", "coordinates": [ { "allele": "T", "end": 1537, "referenceAllele": "G", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN018481", "geneNCBI_id": 23545, "geneSymbol": "ATP6V0A2", "hgvs": [ "NM_012463.4:c.1324G>T" ], "proteinEffect": { "hgvs": "NP_036595.2:p.Glu442Ter", "hgvsWellDefined": "NP_036595.2:p.Glu442_Ala856delinsIleMetArgMetPhePheAsnGlyArgTyrIleLeuLeuLeuMetGlyLeuPheSerValTyrThrGlyLeuIleTyrAsnAspCysPheSerLysSerValAsnLeuPheGlySerGlyTrpAsnValSerAlaMetTyrSerSerSerHisProProAlaGluHisLysLysMetValLeuTrpAsnAspSerValValArgHisAsnSerIleLeuGlnLeuAspProSerIleProGlyValPheArgGlyProTyrProLeuGlyIleAspProIleTrpAsnLeuAlaThrAsnArgLeuThrPheLeuAsnSerPheLysMetLysMetSerValIleLeuGlyIleIleHisMetThrPheGlyValIleLeuGlyIlePheAsnHisLeuHisPheArgLysLysPheAsnIleTyrLeuValSerIleProGluLeuLeuPheMetLeuCysIlePheGlyTyrLeuIlePheMetIlePheTyrLysTrpLeuValPheSerAlaGluThrSerArgValAlaProSerIleLeuIleGluPheIleAsnMetPheLeuPheProAlaSerLysThrSerGlyLeuTyrThrGlyGlnGluTyrValGlnArgValLeuLeuValValThrAlaLeuSerValProValLeuPheLeuGlyLysProLeuPheLeuLeuTrpLeuHisAsnGlyArgSerCysPheGlyValAsnArgSerGlyTyrThrLeuIleArgLysAspSerGluGluGluValSerLeuLeuGlySerGlnAspIleGluGluGlyAsnHisGlnValGluAspGlyCysArgGluMetAlaCysGluGluPheAsnPheGlyGluIleLeuMetThrGlnValIleHisSerIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerAspValLeuTrpAlaMetLeuMetArgValGlyLeuArgValAspThrThrTyrGlyValLeuLeuLeuLeuProValIleAlaLeuPheAlaValLeuThrIlePheIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaIleArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAlaGlyThrLysPheValProPheSerPheSerLeuLeuSerSerLysPheAsnAsnAspAspSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668056", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330342.8:c.1324G>T" }, "RefSeq": { "hgvs": "NM_012463.4:c.1324G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332247.2:p.Glu442Ter" }, "RefSeq": { "hgvs": "NP_036595.2:p.Glu442Ter" } } } } ], "type": "nucleotide" }