{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6162713", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358078[alleleid]", "alleleId": 358078, "preferredName": "NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370573", "RCV": [ "RCV000411258" ], "variationId": 370573 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-71155917-G-A", "id": "11-71155917-G-A", "variant": "11:71155917 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71155917G>A?assembly=hg19", "id": "chr11:g.71155917G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71444871G>A?assembly=hg38", "id": "chr11:g.71444871G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.-164C>T" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:n.-164C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.6:c.-131C>T" ], "proteinEffect": { "hgvs": "ENSP00000435058.2:n.-131C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS825782" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000506866.1:p.Gln28_Phe492delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysPheProGlyGluProCysTrpLeuValProIleProMetAlaGlyGlnCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000507520.1:p.Gln28_Tyr366delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnValArgArgTrpAlaGluLeuAlaGlnArgGlyIleTrpGlnThrHisAlaLysLeuSerProCysArgSerValCysProTrpGlyHisGlnSerCysProLeuPheLeuGlyArgArgGluGlyLeuValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Gln28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Gln28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.359C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "T", "end": 157, "endIntronDirection": "-", "endIntronOffset": 809, "referenceAllele": "C", "start": 157, "startIntronDirection": "-", "startIntronOffset": 810 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-333-810C>T" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-333-810C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000510750.1:p.Gln28_Phe443delinsTrpGlyArgAlaCysCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Gln28Ter", "hgvsWellDefined": "ENSP00000347717.4:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.82C>T" }, "RefSeq": { "hgvs": "NM_001360.3:c.82C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Gln28Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Gln28Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Gln28Ter", "hgvsWellDefined": "ENSP00000347717.3:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Gln28Ter", "hgvsWellDefined": "ENSP00000384739.2:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "C", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.5:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000435707.2:p.Gln28Ter", "hgvsWellDefined": "ENSP00000435707.2:p.Gln28_Gln107del" }, "referenceSequence": "http://reg.genome.network/refseq/RS351390" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000435668.1:p.Gln28Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000435047.1:p.Gln28Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527452.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000436007.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000436007.1:p.Gln28_Pro91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353153" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.5:c.-17C>T" ], "proteinEffect": { "hgvs": "ENSP00000435058.1:n.-17C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355313" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000531364.5:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000432589.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000432589.1:p.Gln28Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356469" }, { "@id": "http://reg.genome.network/allele/PA2825964145", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Gln28Ter", "hgvsWellDefined": "NP_001157289.1:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA645485339", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.82C>T", "LRG_340t1:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Gln28Ter", "hgvsWellDefined": "NP_001351.2:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.82C>T" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Gln28Ter", "hgvsWellDefined": "XP_011543079.1:p.Gln28_Thr456delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.82C>T" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Gln28Ter", "hgvsWellDefined": "XP_011543079.1:p.Gln28_Thr456delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964145", "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Gln28Ter", "hgvsWellDefined": "NP_001157289.1:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA645485339", "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Gln28Ter", "hgvsWellDefined": "NP_001351.2:p.Gln28_Phe475delinsTrpGlyArgAlaTrpGluValAspTrpPheSerLeuAlaSerValIlePheLeuLeuLeuPheAlaProPheIleValTyrTyrPheIleMetAlaCysAspGlnTyrSerCysAlaLeuThrGlyProValValAspIleValThrGlyHisAlaArgLeuSerAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.82C>T" }, "RefSeq": { "hgvs": "NM_001360.3:c.82C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Gln28Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Gln28Ter" } } } } ], "type": "nucleotide" }