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], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.531C>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Cys177Ter", "hgvsWellDefined": "ENSP00000435047.1:p.Cys177Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534701.1:n.122C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359269" }, { "@id": "http://reg.genome.network/allele/PA2825964337", "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.627C>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Cys209Ter", "hgvsWellDefined": 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"A", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.627C>A", "LRG_340t1:c.627C>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Cys209Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.627C>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Cys209Ter", "hgvsWellDefined": "XP_011543079.1:p.Cys209_Thr456delinsLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964337", "coordinates": [ { "allele": "A", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.627C>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Cys209Ter", "hgvsWellDefined": "NP_001157289.1:p.Cys209_Phe475delinsLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA1139700384", "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.627C>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Cys209Ter", "hgvsWellDefined": "NP_001351.2:p.Cys209_Phe475delinsLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.627C>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.627C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Cys209Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Cys209Ter" } } } } ], "type": "nucleotide" }