{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA002504", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69706[alleleid]", "alleleId": 69706, "preferredName": "NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55039", "RCV": [ "RCV000077557", "RCV000162869", "RCV000212178", "RCV000763002", "RCV000587766" ], "variationId": 55039 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41243655G>T?assembly=hg19", "id": "chr17:g.41243655G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43091638G>T?assembly=hg38", "id": "chr17:g.43091638G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80357440", "rs": 80357440 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 43091638, "referenceAllele": "G", "start": 43091637 } ], "hgvs": [ "NC_000017.11:g.43091638G>T", "CM000679.2:g.43091638G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41243655, "referenceAllele": "G", "start": 41243654 } ], "hgvs": [ "NC_000017.10:g.41243655G>T", "CM000679.1:g.41243655G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 38497181, "referenceAllele": "G", "start": 38497180 } ], "hgvs": [ "NC_000017.9:g.38497181G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 126346, "referenceAllele": "C", "start": 126345 } ], "hgvs": [ "NG_005905.2:g.126346C>A", "LRG_292:g.126346C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3957, "referenceAllele": "C", "start": 3956 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.3957C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "A", "end": 4012, "referenceAllele": "C", "start": 4011 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000417241.2:p.Ser1298_Tyr1862delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "A", "end": 4074, "referenceAllele": "C", "start": 4073 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000419274.2:p.Ser1298_Tyr1863delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "A", "end": 3880, "referenceAllele": "C", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.3767C>A" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Ser1256Ter", "hgvsWellDefined": "ENSP00000420201.2:p.Ser1256_Tyr1821delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "A", "end": 3999, "referenceAllele": "C", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.3890C>A" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Ser1297Ter", "hgvsWellDefined": "ENSP00000417554.2:p.Ser1297_Tyr1861delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "A", "end": 3928, "referenceAllele": "C", "start": 3927 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.3815C>A" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Ser1272Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Ser1272_Tyr1837delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "A", "end": 886, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "A", "end": 3974, "referenceAllele": "C", "start": 3973 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.3815C>A" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Ser1272Ter", "hgvsWellDefined": "ENSP00000420781.2:p.Ser1272_Tyr1837delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "A", "end": 878, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "A", "end": 4086, "referenceAllele": "C", "start": 4085 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000419103.2:p.Ser1298_Tyr1863delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "A", "end": 3253, "referenceAllele": "C", "start": 3252 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.3005C>A" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Ser1002Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "A", "end": 4540, "referenceAllele": "C", "start": 4539 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Ser1298_Tyr1863delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "A", "end": 3909, "referenceAllele": "C", "start": 3908 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.3770C>A" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Ser1257Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "C", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Ser1298Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "A", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "A", "end": 4238, "referenceAllele": "C", "start": 4237 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.3752C>A" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Ser1251Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Ser1251_Tyr1816delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "A", "end": 756, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 756, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "A", "end": 798, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 798, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "C", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Ser1298Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3893C>A" }, "RefSeq": { "hgvs": "NM_007294.4:c.3893C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Ser1298Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Ser1298Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4125, "referenceAllele": "C", "start": 4124 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Ser1298Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.1:c.214C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767790" }, { "coordinates": [ { "allele": "A", "end": 789, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 789, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "A", "end": 3957, "referenceAllele": "C", "start": 3956 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Ser1298_Ser1399delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "A", "end": 4012, "referenceAllele": "C", "start": 4011 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Ser1298Ter", "hgvsWellDefined": 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"geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.788-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:n.788-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "A", "end": 4125, "referenceAllele": "C", "start": 4124 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.3893C>A" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Ser1298Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Ser1298_Tyr1884delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" 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"http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "A", "end": 412, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 412, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.413-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:n.413-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "A", "end": 886, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.788-606C>A" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:n.788-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "A", "end": 3984, "referenceAllele": "C", "start": 3983 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.3752C>A" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:p.Ser1251Ter", "hgvsWellDefined": 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"NP_009225.1:p.Ser1298_Tyr1863delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829693717", "coordinates": [ { "allele": "A", "end": 4033, "referenceAllele": "C", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.3752C>A" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Ser1251Ter", "hgvsWellDefined": "NP_009228.2:p.Ser1251_Tyr1816delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "A", "end": 806, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 806, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-606C>A" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "A", "end": 981, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-606C>A" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA916000373", "coordinates": [ { "allele": "A", "end": 4125, "referenceAllele": "C", "start": 4124 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.3893C>A" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Ser1298Ter", "hgvsWellDefined": "NP_009231.2:p.Ser1298_Tyr1884delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "A", "end": 4029, "referenceAllele": "C", "start": 4028 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.4029C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA187125", "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "C", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.3893C>A" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Ser1298Ter", "hgvsWellDefined": "NP_009225.1:p.Ser1298_Tyr1863delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3893C>A" }, "RefSeq": { "hgvs": "NM_007294.4:c.3893C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Ser1298Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Ser1298Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829693717", "coordinates": [ { "allele": "A", "end": 3946, "referenceAllele": "C", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.3752C>A" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Ser1251Ter", "hgvsWellDefined": "NP_009228.2:p.Ser1251_Tyr1816delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "A", "end": 894, "endIntronDirection": "-", "endIntronOffset": 605, "referenceAllele": "C", "start": 894, "startIntronDirection": "-", "startIntronOffset": 606 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-606C>A" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-606C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA916000373", "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "C", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.3893C>A" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Ser1298Ter", "hgvsWellDefined": "NP_009231.2:p.Ser1298_Tyr1884delinsGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "A", "end": 4070, "referenceAllele": "C", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.4070C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }