{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377903493", "communityStandardTitle": [ "NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061852[alleleid]", "alleleId": 1061852, "preferredName": "NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072313", "RCV": [ "RCV001384999" ], "variationId": 1072313 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.104309817G>A?assembly=hg19", "id": "chr10:g.104309817G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.102550060G>A?assembly=hg38", "id": "chr10:g.102550060G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135743382", "rs": 2135743382 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 102550060, 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"transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369902.8:c.408G>A" ], "proteinEffect": { "hgvs": "ENSP00000358918.4:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750502", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.408G>A" }, "RefSeq": { "hgvs": "NM_016169.4:c.408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Trp136Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Trp136Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369899.6:c.408G>A" ], "proteinEffect": { "hgvs": "ENSP00000358915.2:p.Trp136Ter", "hgvsWellDefined": "ENSP00000358915.2:p.Trp136_Leu433delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267762" }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369902.7:c.408G>A" ], "proteinEffect": { "hgvs": "ENSP00000358918.3:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS267763" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000423559.2:c.408G>A" ], "proteinEffect": { "hgvs": "ENSP00000411597.2:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS287820" }, { "@id": "http://reg.genome.network/allele/PA2826140889", "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.1:c.408G>A" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Trp136Ter", "hgvsWellDefined": 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}, { "@id": "http://reg.genome.network/allele/PA2499282345", "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.3:c.408G>A", "LRG_521t1:c.408G>A" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Trp136Ter", "hgvsWellDefined": "NP_057253.2:p.Trp136_His484delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034493" }, { "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.1:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106808" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539859.1:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538161.1:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106809" }, { "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.1:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Trp136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106810" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.1:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538163.1:p.Trp136_His485delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106811" }, { "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539862.1:c.330G>A" ], "proteinEffect": { "hgvs": "XP_011538164.1:p.Trp110Ter", "hgvsWellDefined": "XP_011538164.1:p.Trp110_His501delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106812" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.1:c.234G>A" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Trp78Ter", "hgvsWellDefined": "XP_011538165.1:p.Trp78_His469delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106813" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.1:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538166.1:p.Trp136_Leu434delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106814" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.3:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538160.1:p.Trp136_His527delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553830" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.3:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538162.1:p.Trp136_His526delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553831" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538163.1:p.Trp136_His485delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553832" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.234G>A" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Trp78Ter", "hgvsWellDefined": "XP_011538165.1:p.Trp78_His469delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553833" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539864.3:c.408G>A" ], "proteinEffect": { "hgvs": "XP_011538166.1:p.Trp136Ter", "hgvsWellDefined": "XP_011538166.1:p.Trp136_Leu434delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553834" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_017016323.1:c.330G>A" ], "proteinEffect": { "hgvs": "XP_016871812.1:p.Trp110Ter", "hgvsWellDefined": "XP_016871812.1:p.Trp110_His501delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568792" }, { "@id": "http://reg.genome.network/allele/PA2826140889", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_001178133.2:c.408G>A" ], "proteinEffect": { "hgvs": "NP_001171604.1:p.Trp136Ter", "hgvsWellDefined": "NP_001171604.1:p.Trp136_Leu433delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678956" }, { "@id": "http://reg.genome.network/allele/PA2499282345", "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.408G>A" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Trp136Ter", "hgvsWellDefined": "NP_057253.2:p.Trp136_His484delinsProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.408G>A" }, "RefSeq": { "hgvs": "NM_016169.4:c.408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Trp136Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Trp136Ter" } } } } ], "type": "nucleotide" }