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"http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Arg300Ter", "hgvsWellDefined": "XP_011538163.1:p.Arg300_His485delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553832" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.724C>T" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Arg242Ter", "hgvsWellDefined": "XP_011538165.1:p.Arg242_His469delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553833" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.3:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Arg300Ter", "hgvsWellDefined": "XP_011538166.1:p.Arg300_Leu434delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553834" }, { "coordinates": [ { "allele": "T", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_017016323.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_016871812.1:p.Arg274Ter", "hgvsWellDefined": "XP_016871812.1:p.Arg274_His501delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568792" }, { "@id": "http://reg.genome.network/allele/PA2826141191", "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.2:c.895C>T" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Arg299Ter", "hgvsWellDefined": "NP_001171604.1:p.Arg299_Leu433delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678956" }, { "@id": "http://reg.genome.network/allele/PA915990688", "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.895C>T" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Arg299Ter", "hgvsWellDefined": "NP_057253.2:p.Arg299_His484delinsLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.895C>T" }, "RefSeq": { "hgvs": "NM_016169.4:c.895C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Arg299Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Arg299Ter" } } } } ], "type": "nucleotide" }