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"NP_001007469.1:p.Trp51_Trp376delinsArgArgLeuAlaThrValGluGluArgLysLysIleValAlaSerSerHisAspHisGlyTyrThrThrLeuAlaThrSerValThrLeuLeuLysAlaSerGluValGluGluIleLeuAspGlyAsnAspGluLysTyrLysAlaValSerIleSerThrGluProProThrTyrLeuArgGluGlnLysAlaLysArgAsnSerGlnTrpValProThrLeuProAsnSerSerHisHisLeuAspAlaValProCysSerThrThrIleAsnArgAsnArgMetGlyArgAspLysLysArgThrPheProLeuCysPheAspAspHisAspProAlaValIleHisGluAsnAlaSerGlnProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675289" }, { "@id": "http://reg.genome.network/allele/PA2826973866", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001317946.2:c.153G>A" ], "proteinEffect": { "hgvs": "NP_001304875.1:p.Trp51Ter", "hgvsWellDefined": "NP_001304875.1:p.Trp51_Trp394delinsArgArgLeuAlaThrValGluGluArgLysLysIleValAlaSerSerHisAspHisGlyTyrThrThrLeuAlaThrSerValThrLeuLeuLysAlaSerGluValGluGluIleLeuAspGlyAsnAspGluLysTyrLysAlaValSerIleSerThrGluProProThrTyrLeuArgGluGlnLysAlaLysArgAsnSerGlnTrpValProThrLeuProAsnSerSerHisHisLeuAspAlaValProCysSerThrThrIleAsnArgAsnArgMetGlyArgAspLysLysArgThrPheProLeuTrpCysGlyCysIleAlaAlaLeuThrLeuArgAlaAspSerAlaLeuValLeuHisPheAspAspHisAspProAlaValIleHisGluAsnAlaSerGlnProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684364" }, { "@id": "http://reg.genome.network/allele/PA2828069500", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001362877.2:c.153G>A" ], "proteinEffect": { "hgvs": "NP_001349806.1:p.Trp51Ter", "hgvsWellDefined": "NP_001349806.1:p.Trp51_Trp403delinsArgArgLeuAlaThrValGluGluArgLysLysIleValAlaSerSerHisGlyLysLysThrLysProAsnThrLysAspHisGlyTyrThrThrLeuAlaThrSerValThrLeuLeuLysAlaSerGluValGluGluIleLeuAspGlyAsnAspGluLysTyrLysAlaValSerIleSerThrGluProProThrTyrLeuArgGluGlnLysAlaLysArgAsnSerGlnTrpValProThrLeuProAsnSerSerHisHisLeuAspAlaValProCysSerThrThrIleAsnArgAsnArgMetGlyArgAspLysLysArgThrPheProLeuTrpCysGlyCysIleAlaAlaLeuThrLeuArgAlaAspSerAlaLeuValLeuHisPheAspAspHisAspProAlaValIleHisGluAsnAlaSerGlnProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690561" }, { "@id": "http://reg.genome.network/allele/PA645459073", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_003073.5:c.153G>A" ], "proteinEffect": { "hgvs": "NP_003064.2:p.Trp51Ter", "hgvsWellDefined": "NP_003064.2:p.Trp51_Trp385delinsArgArgLeuAlaThrValGluGluArgLysLysIleValAlaSerSerHisGlyLysLysThrLysProAsnThrLysAspHisGlyTyrThrThrLeuAlaThrSerValThrLeuLeuLysAlaSerGluValGluGluIleLeuAspGlyAsnAspGluLysTyrLysAlaValSerIleSerThrGluProProThrTyrLeuArgGluGlnLysAlaLysArgAsnSerGlnTrpValProThrLeuProAsnSerSerHisHisLeuAspAlaValProCysSerThrThrIleAsnArgAsnArgMetGlyArgAspLysLysArgThrPheProLeuCysPheAspAspHisAspProAlaValIleHisGluAsnAlaSerGlnProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695722", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644036.2:c.153G>A" }, "RefSeq": { "hgvs": "NM_003073.5:c.153G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494049.2:p.Trp51Ter" }, "RefSeq": { "hgvs": "NP_003064.2:p.Trp51Ter" } } } } ], "type": "nucleotide" }