{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381696328", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2866957[alleleid]", "alleleId": 2866957, "preferredName": "NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2707266", "RCV": [ "RCV003508112" ], "variationId": 2707266 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71155112G>T?assembly=hg19", "id": "chr11:g.71155112G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71444066G>T?assembly=hg38", "id": "chr11:g.71444066G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764847274", "rs": 764847274 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 71444066, "referenceAllele": "G", "start": 71444065 } ], "hgvs": [ "NC_000011.10:g.71444066G>T", "CM000673.2:g.71444066G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 71155112, "referenceAllele": "G", "start": 71155111 } ], "hgvs": [ "NC_000011.9:g.71155112G>T", "CM000673.1:g.71155112G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 70832760, "referenceAllele": "G", "start": 70832759 } ], "hgvs": [ "NC_000011.8:g.70832760G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 9366, "referenceAllele": "C", "start": 9365 } ], "hgvs": [ "NG_012655.2:g.9366C>A", "LRG_340:g.9366C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Ser83Ter", "hgvsWellDefined": "ENSP00000435707.3:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Ser83Ter", "hgvsWellDefined": "ENSP00000435668.2:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.74C>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Ser25Ter", "hgvsWellDefined": "ENSP00000435047.2:p.Ser25_Phe417delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.6:c.74C>A" ], "proteinEffect": { "hgvs": "ENSP00000435058.2:p.Ser25Ter", "hgvsWellDefined": "ENSP00000435058.2:p.Ser25Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS825782" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000506866.1:p.Ser83_Phe492delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysPheProGlyGluProCysTrpLeuValProIleProMetAlaGlyGlnCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000507520.1:p.Ser83_Tyr366delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnValArgArgTrpAlaGluLeuAlaGlnArgGlyIleTrpGlnThrHisAlaLysLeuSerProCysArgSerValCysProTrpGlyHisGlnSerCysProLeuPheLeuGlyArgArgGluGlyLeuValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000507607.1:p.Ser83_Phe487delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValSerSerProCysProGlyValGlyThrGlnGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000508207.1:p.Ser83_Thr414delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnValArgArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.525C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "A", "end": 157, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "C", "start": 157, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-333-5C>A" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-333-5C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.152C>A" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Ser51Ter", "hgvsWellDefined": "ENSP00000510750.1:p.Ser51_Phe443delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Ser83Ter", "hgvsWellDefined": "ENSP00000347717.4:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.248C>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.248C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ser83Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ser83Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Ser83Ter", "hgvsWellDefined": "ENSP00000347717.3:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Ser83Ter", "hgvsWellDefined": "ENSP00000384739.2:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.5:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000435707.2:p.Ser83Ter", "hgvsWellDefined": "ENSP00000435707.2:p.Ser83_Gln107del" }, "referenceSequence": "http://reg.genome.network/refseq/RS351390" }, { "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000435668.1:p.Ser83Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.152C>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Ser51Ter", "hgvsWellDefined": "ENSP00000435047.1:p.Ser51Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527452.1:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000436007.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000436007.1:p.Ser83_Pro91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353153" }, { "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000529990.5:c.188C>A" ], "proteinEffect": { "hgvs": "ENSP00000435058.1:p.Ser63Ter", "hgvsWellDefined": "ENSP00000435058.1:p.Ser63Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS355313" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000531364.5:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000432589.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000432589.1:p.Ser83Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356469" }, { "@id": "http://reg.genome.network/allele/PA2825964207", "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.248C>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ser83Ter", "hgvsWellDefined": "NP_001157289.1:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA2828109764", "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.248C>A", "LRG_340t1:c.248C>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ser83Ter", "hgvsWellDefined": "NP_001351.2:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.248C>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ser83Ter", "hgvsWellDefined": "XP_011543079.1:p.Ser83_Thr456delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.248C>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ser83Ter", "hgvsWellDefined": "XP_011543079.1:p.Ser83_Thr456delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964207", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.248C>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ser83Ter", "hgvsWellDefined": "NP_001157289.1:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA2828109764", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.248C>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ser83Ter", "hgvsWellDefined": "NP_001351.2:p.Ser83_Phe475delinsAspIleTrpAlaLysThrProProIleThrArgLysAlaAlaGlnLeuTyrThrLeuTrpValThrPheGlnValLeuLeuTyrThrSerLeuProAspPheCysHisLysPheLeuProGlyTyrValGlyGlyIleGlnGluGlyAlaValThrProAlaGlyValValAsnLysTyrGlnIleAsnGlyLeuGlnAlaTrpLeuLeuThrHisLeuLeuTrpPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.248C>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.248C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ser83Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ser83Ter" } } } } ], "type": "nucleotide" }