{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381696736", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2943204[alleleid]", "alleleId": 2943204, "preferredName": "NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2776868", "RCV": [ "RCV003618108" ], "variationId": 2776868 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71155250C>T?assembly=hg19", "id": "chr11:g.71155250C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71444204C>T?assembly=hg38", "id": "chr11:g.71444204C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2539237238", "rs": 2539237238 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 71444204, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.-65G>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:n.-65G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.6:c.-65G>A" ], "proteinEffect": { "hgvs": "ENSP00000435058.2:n.-65G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825782" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000506866.1:p.Trp37_Phe492delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysPheProGlyGluProCysTrpLeuValProIleProMetAlaGlyGlnCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000507520.1:p.Trp37_Tyr366delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnValArgArgTrpAlaGluLeuAlaGlnArgGlyIleTrpGlnThrHisAlaLysLeuSerProCysArgSerValCysProTrpGlyHisGlnSerCysProLeuPheLeuGlyArgArgGluGlyLeuValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Trp37Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000508207.1:p.Trp37_Thr414delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnValArgArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.387G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "A", "end": 157, "endIntronDirection": "-", "endIntronOffset": 142, "referenceAllele": "G", "start": 157, "startIntronDirection": "-", "startIntronOffset": 143 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-333-143G>A" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-333-143G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "A", "end": 327, "endIntronDirection": "-", "endIntronOffset": 84, "referenceAllele": "G", "start": 327, "startIntronDirection": "-", "startIntronOffset": 85 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.99-85G>A" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:n.99-85G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Trp37Ter", "hgvsWellDefined": "ENSP00000347717.4:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.110G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.110G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Trp37Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Trp37Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Trp37Ter", "hgvsWellDefined": "ENSP00000347717.3:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Trp37Ter", "hgvsWellDefined": "ENSP00000384739.2:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.5:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000435707.2:p.Trp37Ter", "hgvsWellDefined": "ENSP00000435707.2:p.Trp37_Gln107del" }, "referenceSequence": "http://reg.genome.network/refseq/RS351390" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000435668.1:p.Trp37Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "A", "end": 327, "endIntronDirection": "-", "endIntronOffset": 84, "referenceAllele": "G", "start": 327, "startIntronDirection": "-", "startIntronOffset": 85 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.99-85G>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:n.99-85G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "A", "end": 416, "referenceAllele": "G", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527452.1:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000436007.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000436007.1:p.Trp37_Pro91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353153" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.5:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000435058.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000435058.1:p.Trp17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS355313" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000531364.5:c.110G>A" ], "proteinEffect": { "hgvs": "ENSP00000432589.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000432589.1:p.Trp37Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356469" }, { "@id": "http://reg.genome.network/allele/PA2825964156", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.110G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Trp37Ter", "hgvsWellDefined": "NP_001157289.1:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA274451", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.110G>A", "LRG_340t1:c.110G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp37Ter", "hgvsWellDefined": "NP_001351.2:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.110G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp37Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp37_Thr456delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.110G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp37Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp37_Thr456delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964156", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.110G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Trp37Ter", "hgvsWellDefined": "NP_001157289.1:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA274451", "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.110G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp37Ter", "hgvsWellDefined": "NP_001351.2:p.Trp37_Phe475delinsPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.110G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.110G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Trp37Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Trp37Ter" } } } } ], "type": "nucleotide" }