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}, "referenceSequence": "http://reg.genome.network/refseq/RS512614" }, { "@id": "http://reg.genome.network/allele/PA916043566", "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001362877.1:c.598C>T" ], "proteinEffect": { "hgvs": "NP_001349806.1:p.Gln200Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "NP_003064.2:p.Gln182Ter", "hgvsWellDefined": "NP_003064.2:p.Gln182_Trp385delinsProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525056" }, { "@id": "http://reg.genome.network/allele/PA2825287139", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001007468.3:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001007469.1:p.Gln173Ter", "hgvsWellDefined": "NP_001007469.1:p.Gln173_Trp376delinsProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675289" }, { "@id": "http://reg.genome.network/allele/PA2826974038", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001317946.2:c.571C>T" ], "proteinEffect": { "hgvs": "NP_001304875.1:p.Gln191Ter", "hgvsWellDefined": "NP_001304875.1:p.Gln191_Trp394delinsProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684364" }, { "@id": "http://reg.genome.network/allele/PA916043566", "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_001362877.2:c.598C>T" ], "proteinEffect": { "hgvs": "NP_001349806.1:p.Gln200Ter", "hgvsWellDefined": "NP_001349806.1:p.Gln200_Trp403delinsProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690561" }, { "@id": "http://reg.genome.network/allele/PA119233", "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN011103", "geneNCBI_id": 6598, "geneSymbol": "SMARCB1", "hgvs": [ "NM_003073.5:c.544C>T" ], "proteinEffect": { "hgvs": "NP_003064.2:p.Gln182Ter", "hgvsWellDefined": "NP_003064.2:p.Gln182_Trp385delinsProGluValLeuValProIleArgLeuAspMetGluIleAspGlyGlnLysLeuArgAspAlaPheThrTrpAsnMetAsnGluLysLeuMetThrProGluMetPheSerGluIleLeuCysAspAspLeuAspLeuAsnProLeuThrPheValProAlaIleAlaSerAlaIleArgGlnGlnIleGluSerTyrProThrAspSerIleLeuGluAspGlnSerAspGlnArgValIleIleLysLeuAsnIleHisValGlyAsnIleSerLeuValAspGlnPheGluTrpAspMetSerGluLysGluAsnSerProGluLysPheAlaLeuLysLeuCysSerGluLeuGlyLeuGlyGlyGluPheValThrThrIleAlaTyrSerIleArgGlyGlnLeuSerTrpHisGlnLysThrTyrAlaPheSerGluAsnProLeuProThrValGluIleAlaIleArgAsnThrGlyAspAlaAspGlnTrpCysProLeuLeuGluThrLeuThrAspAlaGluMetGluLysLysIleArgAspGlnAspArgAsnThrArgArgMetArgArgLeuAlaAsnThrAlaProAlaTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695722", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644036.2:c.544C>T" }, "RefSeq": { "hgvs": "NM_003073.5:c.544C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494049.2:p.Gln182Ter" }, "RefSeq": { "hgvs": "NP_003064.2:p.Gln182Ter" } } } } ], "type": "nucleotide" }