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{ "coordinates": [ { "allele": "A", "end": 1400, "referenceAllele": "T", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "XM_011535748.1:c.903T>A" ], "proteinEffect": { "hgvs": "XP_011534050.1:p.Cys301Ter", "hgvsWellDefined": "XP_011534050.1:p.Cys301_Ile381delinsArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgThrLysLysGluLeuLysLeuMetLysSerValAsnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102751" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "T", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "XM_005266930.3:c.903T>A" ], "proteinEffect": { "hgvs": "XP_005266987.1:p.Cys301Ter", "hgvsWellDefined": 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"XP_016866216.1:p.Cys301_Gln597delinsArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564720" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "T", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "XM_017010728.1:c.177T>A" ], "proteinEffect": { "hgvs": "XP_016866217.1:p.Cys59Ter", "hgvsWellDefined": "XP_016866217.1:p.Cys59_Gln379delinsArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564721" }, { "@id": "http://reg.genome.network/allele/PA2826613847", "coordinates": [ { "allele": "A", "end": 1352, "referenceAllele": "T", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "NM_001278716.2:c.903T>A" ], "proteinEffect": { "hgvs": "NP_001265645.1:p.Cys301Ter", "hgvsWellDefined": "NP_001265645.1:p.Cys301_Gln621delinsArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664186", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369244.7:c.903T>A" }, "RefSeq": { "hgvs": "NM_001278716.2:c.903T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358247.1:p.Cys301Ter" }, "RefSeq": { "hgvs": "NP_001265645.1:p.Cys301Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "T", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "NR_103836.2:n.888T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702881" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "T", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "NR_103837.2:n.888T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702882" }, { "@id": "http://reg.genome.network/allele/PA645460660", "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "T", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN013601", "geneNCBI_id": 26235, "geneSymbol": "FBXL4", "hgvs": [ "NM_012160.5:c.903T>A" ], "proteinEffect": { "hgvs": "NP_036292.2:p.Cys301Ter", "hgvsWellDefined": "NP_036292.2:p.Cys301_Gln621delinsArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727846" } ], "type": "nucleotide" }