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"ENSP00000234396.4:p.Lys135_Leu513delinsGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248918" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "A", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000412314.5:c.403A>T" ], "proteinEffect": { "hgvs": "ENSP00000388353.1:p.Lys135Ter", "hgvsWellDefined": "ENSP00000388353.1:p.Lys135_Leu496delinsGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282553" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "A", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432098.1:c.43A>T" ], "proteinEffect": { "hgvs": "ENSP00000387599.1:p.Lys15Ter", "hgvsWellDefined": "ENSP00000387599.1:p.Lys15Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291939" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "A", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432367.5:c.403A>T" ], "proteinEffect": { "hgvs": "ENSP00000405114.1:p.Lys135Ter", "hgvsWellDefined": "ENSP00000405114.1:p.Lys135_Val248delinsGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValArgArgLeuSerArgLeuAlaSerGluHisGlyAspSerGlnIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292056" }, { "coordinates": [ { "allele": "A", "end": 142, "endIntronDirection": "-", "endIntronOffset": 10677, "referenceAllele": "T", "start": 142, "startIntronDirection": "-", "startIntronOffset": 10678 } ], "hgvs": [ "ENST00000453130.1:c.143-10678T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS301948" }, { "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "A", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000454446.5:c.454A>T" ], "proteinEffect": { "hgvs": "ENSP00000408361.1:p.Lys152Ter", "hgvsWellDefined": "ENSP00000408361.1:p.Lys152Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302565" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "A", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000463380.1:n.504A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307428" }, { "coordinates": [ { "allele": "A", "end": 1054, "endIntronDirection": "-", "endIntronOffset": 16619, "referenceAllele": "T", "start": 1054, "startIntronDirection": "-", "startIntronOffset": 16620 } ], "hgvs": [ "ENST00000606025.5:c.476-16620T>A" ], "proteinEffect": { "hgvs": "ENSP00000475641.1:n.476-16620T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS399637" }, { "@id": "http://reg.genome.network/allele/PA2741887375", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "A", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.3:c.403A>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Lys135Ter", "hgvsWellDefined": "NP_001683.2:p.Lys135_Leu513delinsGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027030" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.1:c.523A>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Lys175Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS099933" }, { "@id": "http://reg.genome.network/allele/PA2741887375", "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.4:c.403A>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Lys135Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS524901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234396.10:c.403A>T" }, "RefSeq": { "hgvs": "NM_001692.4:c.403A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234396.4:p.Lys135Ter" }, "RefSeq": { "hgvs": "NP_001683.2:p.Lys135Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "A", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.2:c.523A>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Lys175Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS551020" } ], "type": "nucleotide" }