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"start": 1133 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.911G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp304Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp304_Thr456delinsTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.911G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp304Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp304_Thr456delinsTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964458", "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "G", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.911G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Trp304Ter", "hgvsWellDefined": "NP_001157289.1:p.Trp304_Phe475delinsTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA2580217905", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.911G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp304Ter", "hgvsWellDefined": "NP_001351.2:p.Trp304_Phe475delinsTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.911G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.911G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Trp304Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Trp304Ter" } } } } ], "type": "nucleotide" }