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"gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.889C>T" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Gln297Ter", "hgvsWellDefined": "XP_011538163.1:p.Gln297_His485delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553832" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.715C>T" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Gln239Ter", "hgvsWellDefined": "XP_011538165.1:p.Gln239_His469delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553833" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.3:c.889C>T" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Gln297Ter", "hgvsWellDefined": "XP_011538166.1:p.Gln297_Leu434delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553834" }, { "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "C", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_017016323.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_016871812.1:p.Gln271Ter", "hgvsWellDefined": "XP_016871812.1:p.Gln271_His501delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568792" }, { "@id": "http://reg.genome.network/allele/PA2826141181", "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.2:c.886C>T" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Gln296Ter", "hgvsWellDefined": "NP_001171604.1:p.Gln296_Leu433delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678956" }, { "@id": "http://reg.genome.network/allele/PA2573269304", "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.886C>T" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Gln296Ter", "hgvsWellDefined": "NP_057253.2:p.Gln296_His484delinsProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.886C>T" }, "RefSeq": { "hgvs": "NM_016169.4:c.886C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Gln296Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Gln296Ter" } } } } ], "type": "nucleotide" }