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"NP_001159574.1:p.Arg50_Ser455delinsGlyAspTrpTyrLysThrLysGluIleLeuLeuLysGlyProAspTrpIleLeuGlyGluIleLysThrSerGlyLeuArgGlyArgGlyGlyAlaGlyPheProThrGlyLeuLysTrpSerPheMetAsnLysProSerAspGlyArgProLysTyrLeuValValAsnAlaAspGluGlyGluProGlyThrCysLysAspArgGluIleLeuArgHisAspProHisLysLeuLeuGluGlyCysLeuValGlyGlyArgAlaMetGlyAlaArgAlaAlaTyrIleTyrIleArgGlyGluPheTyrAsnGluAlaSerAsnLeuGlnValAlaIleArgGluAlaTyrGluAlaGlyLeuIleGlyLysAsnAlaCysGlySerGlyTyrAspPheAspValPheValValArgGlyAlaGlyAlaTyrIleCysGlyGluGluThrAlaLeuIleGluSerIleGluGlyLysGlnGlyLysProArgLeuLysProProPheProAlaAspValGlyValPheGlyCysProThrThrValAlaAsnValGluThrValAlaValSerProThrIleCysArgArgGlyGlyThrTrpPheAlaGlyPheGlyArgGluArgAsnSerGlyThrLysLeuPheAsnIleSerGlyHisValAsnHisProCysThrValGluGluGluMetSerValProLeuLysGluLeuIleGluLysHisAlaGlyGlyValThrGlyGlyTrpAspAsnLeuLeuAlaValIleProGlyGlySerSerThrProLeuIleProLysSerValCysGluThrValLeuMetAspPheAspAlaLeuValGlnAlaGlnThrGlyLeuGlyThrAlaAlaValIleValMetAspArgSerThrAspIleValLysAlaIleAlaArgLeuIleGluPheTyrLysHisGluSerCysGlyGlnCysThrProCysArgGluGlyValAspTrpMetAsnLysValMetAlaArgPheValArgGlyAspAlaArgProAlaGluIleAspSerLeuTrpGluIleSerLysGlnIleGluGlyHisThrIleCysAlaLeuGlyAspGlyAlaAlaTrpProValGlnGlyLeuIleArgHisPheArgProGluLeuGluGluArgMetGlnArgPheAlaGlnGlnHisGlnAlaArgGlnAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014788" }, { "@id": "http://reg.genome.network/allele/PA082752", "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN007716", "geneNCBI_id": 4723, "geneSymbol": "NDUFV1", "hgvs": [ "NM_007103.3:c.175C>T" ], "proteinEffect": { "hgvs": "NP_009034.2:p.Arg59Ter", "hgvsWellDefined": "NP_009034.2:p.Arg59_Ser464delinsGlyAspTrpTyrLysThrLysGluIleLeuLeuLysGlyProAspTrpIleLeuGlyGluIleLysThrSerGlyLeuArgGlyArgGlyGlyAlaGlyPheProThrGlyLeuLysTrpSerPheMetAsnLysProSerAspGlyArgProLysTyrLeuValValAsnAlaAspGluGlyGluProGlyThrCysLysAspArgGluIleLeuArgHisAspProHisLysLeuLeuGluGlyCysLeuValGlyGlyArgAlaMetGlyAlaArgAlaAlaTyrIleTyrIleArgGlyGluPheTyrAsnGluAlaSerAsnLeuGlnValAlaIleArgGluAlaTyrGluAlaGlyLeuIleGlyLysAsnAlaCysGlySerGlyTyrAspPheAspValPheValValArgGlyAlaGlyAlaTyrIleCysGlyGluGluThrAlaLeuIleGluSerIleGluGlyLysGlnGlyLysProArgLeuLysProProPheProAlaAspValGlyValPheGlyCysProThrThrValAlaAsnValGluThrValAlaValSerProThrIleCysArgArgGlyGlyThrTrpPheAlaGlyPheGlyArgGluArgAsnSerGlyThrLysLeuPheAsnIleSerGlyHisValAsnHisProCysThrValGluGluGluMetSerValProLeuLysGluLeuIleGluLysHisAlaGlyGlyValThrGlyGlyTrpAspAsnLeuLeuAlaValIleProGlyGlySerSerThrProLeuIleProLysSerValCysGluThrValLeuMetAspPheAspAlaLeuValGlnAlaGlnThrGlyLeuGlyThrAlaAlaValIleValMetAspArgSerThrAspIleValLysAlaIleAlaArgLeuIleGluPheTyrLysHisGluSerCysGlyGlnCysThrProCysArgGluGlyValAspTrpMetAsnLysValMetAlaArgPheValArgGlyAspAlaArgProAlaGluIleAspSerLeuTrpGluIleSerLysGlnIleGluGlyHisThrIleCysAlaLeuGlyAspGlyAlaAlaTrpProValGlnGlyLeuIleArgHisPheArgProGluLeuGluGluArgMetGlnArgPheAlaGlnGlnHisGlnAlaArgGlnAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032045" }, { "@id": "http://reg.genome.network/allele/PA2826017816", "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN007716", "geneNCBI_id": 4723, "geneSymbol": "NDUFV1", "hgvs": [ "NM_001166102.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001159574.1:p.Arg50Ter", "hgvsWellDefined": "NP_001159574.1:p.Arg50_Ser455delinsGlyAspTrpTyrLysThrLysGluIleLeuLeuLysGlyProAspTrpIleLeuGlyGluIleLysThrSerGlyLeuArgGlyArgGlyGlyAlaGlyPheProThrGlyLeuLysTrpSerPheMetAsnLysProSerAspGlyArgProLysTyrLeuValValAsnAlaAspGluGlyGluProGlyThrCysLysAspArgGluIleLeuArgHisAspProHisLysLeuLeuGluGlyCysLeuValGlyGlyArgAlaMetGlyAlaArgAlaAlaTyrIleTyrIleArgGlyGluPheTyrAsnGluAlaSerAsnLeuGlnValAlaIleArgGluAlaTyrGluAlaGlyLeuIleGlyLysAsnAlaCysGlySerGlyTyrAspPheAspValPheValValArgGlyAlaGlyAlaTyrIleCysGlyGluGluThrAlaLeuIleGluSerIleGluGlyLysGlnGlyLysProArgLeuLysProProPheProAlaAspValGlyValPheGlyCysProThrThrValAlaAsnValGluThrValAlaValSerProThrIleCysArgArgGlyGlyThrTrpPheAlaGlyPheGlyArgGluArgAsnSerGlyThrLysLeuPheAsnIleSerGlyHisValAsnHisProCysThrValGluGluGluMetSerValProLeuLysGluLeuIleGluLysHisAlaGlyGlyValThrGlyGlyTrpAspAsnLeuLeuAlaValIleProGlyGlySerSerThrProLeuIleProLysSerValCysGluThrValLeuMetAspPheAspAlaLeuValGlnAlaGlnThrGlyLeuGlyThrAlaAlaValIleValMetAspArgSerThrAspIleValLysAlaIleAlaArgLeuIleGluPheTyrLysHisGluSerCysGlyGlnCysThrProCysArgGluGlyValAspTrpMetAsnLysValMetAlaArgPheValArgGlyAspAlaArgProAlaGluIleAspSerLeuTrpGluIleSerLysGlnIleGluGlyHisThrIleCysAlaLeuGlyAspGlyAlaAlaTrpProValGlnGlyLeuIleArgHisPheArgProGluLeuGluGluArgMetGlnArgPheAlaGlnGlnHisGlnAlaArgGlnAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678457" }, { "@id": "http://reg.genome.network/allele/PA082752", "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN007716", "geneNCBI_id": 4723, "geneSymbol": "NDUFV1", "hgvs": [ "NM_007103.4:c.175C>T" ], "proteinEffect": { "hgvs": "NP_009034.2:p.Arg59Ter", "hgvsWellDefined": "NP_009034.2:p.Arg59_Ser464delinsGlyAspTrpTyrLysThrLysGluIleLeuLeuLysGlyProAspTrpIleLeuGlyGluIleLysThrSerGlyLeuArgGlyArgGlyGlyAlaGlyPheProThrGlyLeuLysTrpSerPheMetAsnLysProSerAspGlyArgProLysTyrLeuValValAsnAlaAspGluGlyGluProGlyThrCysLysAspArgGluIleLeuArgHisAspProHisLysLeuLeuGluGlyCysLeuValGlyGlyArgAlaMetGlyAlaArgAlaAlaTyrIleTyrIleArgGlyGluPheTyrAsnGluAlaSerAsnLeuGlnValAlaIleArgGluAlaTyrGluAlaGlyLeuIleGlyLysAsnAlaCysGlySerGlyTyrAspPheAspValPheValValArgGlyAlaGlyAlaTyrIleCysGlyGluGluThrAlaLeuIleGluSerIleGluGlyLysGlnGlyLysProArgLeuLysProProPheProAlaAspValGlyValPheGlyCysProThrThrValAlaAsnValGluThrValAlaValSerProThrIleCysArgArgGlyGlyThrTrpPheAlaGlyPheGlyArgGluArgAsnSerGlyThrLysLeuPheAsnIleSerGlyHisValAsnHisProCysThrValGluGluGluMetSerValProLeuLysGluLeuIleGluLysHisAlaGlyGlyValThrGlyGlyTrpAspAsnLeuLeuAlaValIleProGlyGlySerSerThrProLeuIleProLysSerValCysGluThrValLeuMetAspPheAspAlaLeuValGlnAlaGlnThrGlyLeuGlyThrAlaAlaValIleValMetAspArgSerThrAspIleValLysAlaIleAlaArgLeuIleGluPheTyrLysHisGluSerCysGlyGlnCysThrProCysArgGluGlyValAspTrpMetAsnLysValMetAlaArgPheValArgGlyAspAlaArgProAlaGluIleAspSerLeuTrpGluIleSerLysGlnIleGluGlyHisThrIleCysAlaLeuGlyAspGlyAlaAlaTrpProValGlnGlyLeuIleArgHisPheArgProGluLeuGluGluArgMetGlnArgPheAlaGlnGlnHisGlnAlaArgGlnAlaAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696909", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000322776.11:c.175C>T" }, "RefSeq": { "hgvs": "NM_007103.4:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322450.6:p.Arg59Ter" }, "RefSeq": { "hgvs": "NP_009034.2:p.Arg59Ter" } } } } ], "type": "nucleotide" }