{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16612979", "communityStandardTitle": [ "NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4427066", "active": true, "id": "COSM4427066" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397642[alleleid]", "alleleId": 397642, "preferredName": "NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406388", "RCV": [ "RCV000519054", "RCV000460887", "RCV002329034" ], "variationId": 406388 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.104309845C>T?assembly=hg19", "id": "chr10:g.104309845C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.102550088C>T?assembly=hg38", "id": "chr10:g.102550088C>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750502", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.436C>T" }, "RefSeq": { "hgvs": "NM_016169.4:c.436C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Arg146Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Arg146Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369899.6:c.436C>T" ], "proteinEffect": { "hgvs": "ENSP00000358915.2:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS267763" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000423559.2:c.436C>T" ], "proteinEffect": { "hgvs": "ENSP00000411597.2:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS287820" }, { "@id": "http://reg.genome.network/allele/PA2826140905", "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.1:c.436C>T" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034493" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.1:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106808" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539859.1:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538161.1:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106809" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.1:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Arg146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106810" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.1:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538163.1:p.Arg146_His485delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106811" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539862.1:c.358C>T" ], "proteinEffect": { "hgvs": "XP_011538164.1:p.Arg120Ter", "hgvsWellDefined": "XP_011538164.1:p.Arg120_His501delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106812" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "C", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Arg88Ter", "hgvsWellDefined": "XP_011538165.1:p.Arg88_His469delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106813" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.1:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538166.1:p.Arg146_Leu434delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106814" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.3:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538160.1:p.Arg146_His527delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553830" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.3:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538162.1:p.Arg146_His526delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553831" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538163.1:p.Arg146_His485delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553832" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Arg88Ter", "hgvsWellDefined": "XP_011538165.1:p.Arg88_His469delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553833" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.3:c.436C>T" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Arg146Ter", "hgvsWellDefined": "XP_011538166.1:p.Arg146_Leu434delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553834" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_017016323.1:c.358C>T" ], "proteinEffect": { "hgvs": "XP_016871812.1:p.Arg120Ter", "hgvsWellDefined": "XP_016871812.1:p.Arg120_His501delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568792" }, { "@id": "http://reg.genome.network/allele/PA2826140905", "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.2:c.436C>T" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Arg146Ter", "hgvsWellDefined": "NP_001171604.1:p.Arg146_Leu433delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678956" }, { "@id": "http://reg.genome.network/allele/PA645482198", "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.436C>T" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Arg146Ter", "hgvsWellDefined": "NP_057253.2:p.Arg146_His484delinsTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.436C>T" }, "RefSeq": { "hgvs": "NM_016169.4:c.436C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Arg146Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Arg146Ter" } } } } ], "type": "nucleotide" }