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"allele": "T", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN017327", "geneNCBI_id": 51322, "geneSymbol": "WAC", "hgvs": [ "XR_001747110.1:n.1027C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595315" }, { "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN017327", "geneNCBI_id": 51322, "geneSymbol": "WAC", "hgvs": [ "XR_930491.2:n.992C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609549" }, { "@id": "http://reg.genome.network/allele/PA645415408", "coordinates": [ { "allele": "T", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN017327", "geneNCBI_id": 51322, "geneSymbol": "WAC", "hgvs": [ "NM_016628.5:c.1072C>T" ], "proteinEffect": { "hgvs": "NP_057712.2:p.Gln358Ter", "hgvsWellDefined": "NP_057712.2:p.Gln358_Val647delinsAspProAsnLeuLeuArgGlnLeuLeuProAlaLeuGlnAlaThrLeuGlnLeuAsnAsnSerAsnValAspIleSerLysIleAsnGluValLeuThrAlaAlaValThrGlnAlaSerLeuGlnSerIleIleHisLysPheLeuThrAlaGlyProSerAlaPheAsnIleThrSerLeuIleSerGlnAlaAlaGlnLeuSerThrGlnAlaGlnProSerAsnGlnSerProMetSerLeuThrSerAspAlaSerSerProArgSerTyrValSerProArgIleSerThrProGlnThrAsnThrValProIleLysProLeuIleSerThrProProValSerSerGlnProLysValSerThrProValValLysGlnGlyProValSerGlnSerAlaThrGlnGlnProValThrAlaAspLysGlnGlnGlyHisGluProValSerProArgSerLeuGlnArgSerSerSerGlnArgSerProSerProGlyProAsnHisThrSerAsnSerSerAsnAlaSerAsnAlaThrValValProGlnAsnSerSerAlaArgSerThrCysSerLeuThrProAlaLeuAlaAlaHisPheSerGluAsnLeuIleLysHisValGlnGlyTrpProAlaAspHisAlaGluLysGlnAlaSerArgLeuArgGluGluAlaHisAsnMetGlyThrIleHisMetSerGluIleCysThrGluLeuLysAsnLeuArgSerLeuValArgValCysGluIleGlnAlaThrLeuArgGluGlnArgIleLeuPheLeuArgGlnGlnIleLysGluLeuGluLysLeuLysAsnGlnAsnSerPheMetValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697768", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354911.9:c.1072C>T" }, "RefSeq": { "hgvs": "NM_016628.5:c.1072C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346986.4:p.Gln358Ter" }, "RefSeq": { "hgvs": "NP_057712.2:p.Gln358Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830165150", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN017327", "geneNCBI_id": 51322, "geneSymbol": "WAC", "hgvs": [ "NM_100264.3:c.937C>T" ], "proteinEffect": { "hgvs": "NP_567822.1:p.Gln313Ter", "hgvsWellDefined": "NP_567822.1:p.Gln313_Val602delinsAspProAsnLeuLeuArgGlnLeuLeuProAlaLeuGlnAlaThrLeuGlnLeuAsnAsnSerAsnValAspIleSerLysIleAsnGluValLeuThrAlaAlaValThrGlnAlaSerLeuGlnSerIleIleHisLysPheLeuThrAlaGlyProSerAlaPheAsnIleThrSerLeuIleSerGlnAlaAlaGlnLeuSerThrGlnAlaGlnProSerAsnGlnSerProMetSerLeuThrSerAspAlaSerSerProArgSerTyrValSerProArgIleSerThrProGlnThrAsnThrValProIleLysProLeuIleSerThrProProValSerSerGlnProLysValSerThrProValValLysGlnGlyProValSerGlnSerAlaThrGlnGlnProValThrAlaAspLysGlnGlnGlyHisGluProValSerProArgSerLeuGlnArgSerSerSerGlnArgSerProSerProGlyProAsnHisThrSerAsnSerSerAsnAlaSerAsnAlaThrValValProGlnAsnSerSerAlaArgSerThrCysSerLeuThrProAlaLeuAlaAlaHisPheSerGluAsnLeuIleLysHisValGlnGlyTrpProAlaAspHisAlaGluLysGlnAlaSerArgLeuArgGluGluAlaHisAsnMetGlyThrIleHisMetSerGluIleCysThrGluLeuLysAsnLeuArgSerLeuValArgValCysGluIleGlnAlaThrLeuArgGluGlnArgIleLeuPheLeuArgGlnGlnIleLysGluLeuGluLysLeuLysAsnGlnAsnSerPheMetValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699582" }, { "@id": "http://reg.genome.network/allele/PA2830165241", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN017327", "geneNCBI_id": 51322, "geneSymbol": "WAC", "hgvs": [ "NM_100486.4:c.763C>T" ], "proteinEffect": { "hgvs": "NP_567823.1:p.Gln255Ter", "hgvsWellDefined": "NP_567823.1:p.Gln255_Val544delinsAspProAsnLeuLeuArgGlnLeuLeuProAlaLeuGlnAlaThrLeuGlnLeuAsnAsnSerAsnValAspIleSerLysIleAsnGluValLeuThrAlaAlaValThrGlnAlaSerLeuGlnSerIleIleHisLysPheLeuThrAlaGlyProSerAlaPheAsnIleThrSerLeuIleSerGlnAlaAlaGlnLeuSerThrGlnAlaGlnProSerAsnGlnSerProMetSerLeuThrSerAspAlaSerSerProArgSerTyrValSerProArgIleSerThrProGlnThrAsnThrValProIleLysProLeuIleSerThrProProValSerSerGlnProLysValSerThrProValValLysGlnGlyProValSerGlnSerAlaThrGlnGlnProValThrAlaAspLysGlnGlnGlyHisGluProValSerProArgSerLeuGlnArgSerSerSerGlnArgSerProSerProGlyProAsnHisThrSerAsnSerSerAsnAlaSerAsnAlaThrValValProGlnAsnSerSerAlaArgSerThrCysSerLeuThrProAlaLeuAlaAlaHisPheSerGluAsnLeuIleLysHisValGlnGlyTrpProAlaAspHisAlaGluLysGlnAlaSerArgLeuArgGluGluAlaHisAsnMetGlyThrIleHisMetSerGluIleCysThrGluLeuLysAsnLeuArgSerLeuValArgValCysGluIleGlnAlaThrLeuArgGluGlnArgIleLeuPheLeuArgGlnGlnIleLysGluLeuGluLysLeuLysAsnGlnAsnSerPheMetValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699583" } ], "type": "nucleotide" }