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"XP_016860490.1:p.Arg194_Pro286delinsValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnThrCysHisHisCysSerLeuArgCysHisProTrpArgMetLeuPheArgLeuGluAlaIleLeuGlyThrThrSerSerHisLeuIleArgArgAsnArgLysGluPheSerIlePheValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560372" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XM_017005002.1:c.-99C>T" ], "proteinEffect": { "hgvs": "XP_016860491.1:n.-99C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS560373" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "XR_001738961.1:n.902C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589385" }, { "@id": "http://reg.genome.network/allele/PA916053171", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_025000.4:c.580C>T" ], "proteinEffect": { "hgvs": "NP_079276.2:p.Arg194Ter", "hgvsWellDefined": "NP_079276.2:p.Arg194_Cys520delinsValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAlaLysAsnGlyIleGlnGluMetAspCysCysSerLeuGluSerAspTrpIleTyrPheHisProAspAlaSerGlyArgIleIleHisValGlyProAsnGlnValLysValLeuLysLeuThrGluIleGluAsnAsnSerSerGlnHisGlnIleSerGluAspPheValIleLeuAlaAsnArgGluAsnHisLysAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375255.8:c.580C>T" }, "RefSeq": { "hgvs": "NM_025000.4:c.580C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364404.3:p.Arg194Ter" }, "RefSeq": { "hgvs": "NP_079276.2:p.Arg194Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NR_028482.2:n.932C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702051" }, { "@id": "http://reg.genome.network/allele/PA2826004525", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN025784", "geneNCBI_id": 80067, "geneSymbol": "DCAF17", "hgvs": [ "NM_001164821.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001158293.1:p.Arg194Ter", "hgvsWellDefined": "NP_001158293.1:p.Arg194_Cys453delinsValLeuProPheSerLeuValGlyIleLeuGluIleAsnLysLysIlePheGlyAsnValThrAspAlaThrLeuSerHisGlyIleLeuIleValMetTyrSerSerGlyLeuValArgLeuTyrSerPheGlnThrIleAlaGluGlnPheMetGlnGlnLysLeuAspLeuGlyCysAlaCysArgTrpGlyGlyThrThrGlyThrValGlyGluAlaProPheGlyIleProCysAsnIleLysIleThrAspMetProProLeuLeuPheGluValSerSerLeuGluAsnAlaPheGlnIleGlyGlyHisProTrpHisTyrIleValThrProAsnLysLysLysGlnLysGlyValPheHisIleCysAlaLeuLysAspAsnSerLeuAsnGluAsnValLeuThrValThrAlaSerGlyArgValValLysLysSerPheAsnLeuLeuAspAspAspProGluGlnGluThrPheLysIleValAspTyrGluAspGluLeuAspLeuLeuSerValValAlaValThrGlnIleAspAlaGluGlyLysAlaHisLeuAspPheHisCysAsnGluTyrGlyThrLeuLeuLysSerIleProLeuValGluSerTrpAspValThrTyrSerHisGluValTyrPheAspArgAspLeuValLeuHisIleGluGlnLysProAsnArgValPheSerCysTyrValTyrGlnMetIleCysAspThrGlyGluGluGluGluThrIleAsnArgSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713128" } ], "type": "nucleotide" }