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"referenceSequence": "http://reg.genome.network/refseq/RS553830" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.3:c.642G>A" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Trp214Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS553831" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.642G>A" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Trp214Ter", "hgvsWellDefined": 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"start": 645 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.468G>A" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Trp156Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "XP_016871812.1:p.Trp188Ter", "hgvsWellDefined": 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"geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.642G>A" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Trp214Ter", "hgvsWellDefined": "NP_057253.2:p.Trp214_His484delinsAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.642G>A" }, "RefSeq": { "hgvs": "NM_016169.4:c.642G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Trp214Ter" }, "RefSeq": { "hgvs": "NP_057253.2:p.Trp214Ter" } } } } ], "type": "nucleotide" }