{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA001798", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69329[alleleid]", "alleleId": 69329, "preferredName": "NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54662", "RCV": [ "RCV000577003", "RCV000661276", "RCV001386302" ], "variationId": 54662 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41244820G>A?assembly=hg19", "id": "chr17:g.41244820G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43092803G>A?assembly=hg38", "id": "chr17:g.43092803G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397509004", "rs": 397509004 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 43092803, "referenceAllele": "G", "start": 43092802 } ], "hgvs": [ "NC_000017.11:g.43092803G>A", "CM000679.2:g.43092803G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41244820, "referenceAllele": "G", "start": 41244819 } ], "hgvs": [ "NC_000017.10:g.41244820G>A", "CM000679.1:g.41244820G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 38498346, "referenceAllele": "G", "start": 38498345 } ], "hgvs": [ "NC_000017.9:g.38498346G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 125181, "referenceAllele": "C", "start": 125180 } ], "hgvs": [ "NG_005905.2:g.125181C>T", "LRG_292:g.125181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2792, "referenceAllele": "C", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.2792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000417241.2:p.Gln910_Tyr1862delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000419274.2:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.2602C>T" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Gln868Ter", "hgvsWellDefined": "ENSP00000420201.2:p.Gln868_Tyr1821delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "T", "end": 2834, "referenceAllele": "C", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.2725C>T" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Gln909Ter", "hgvsWellDefined": "ENSP00000417554.2:p.Gln909_Tyr1861delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "T", "end": 2763, "referenceAllele": "C", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.2650C>T" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Gln884Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Gln884_Tyr1837delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "T", "end": 2809, "referenceAllele": "C", "start": 2808 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.2650C>T" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Gln884Ter", "hgvsWellDefined": "ENSP00000420781.2:p.Gln884_Tyr1837delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "T", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "T", "end": 2921, "referenceAllele": "C", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000419103.2:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "C", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.1840C>T" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Gln614Ter", "hgvsWellDefined": "ENSP00000418986.2:p.Gln614_Tyr1567delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "T", "end": 3375, "referenceAllele": "C", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "T", "end": 2744, "referenceAllele": "C", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.2605C>T" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Gln869Ter", "hgvsWellDefined": "ENSP00000489431.2:p.Gln869_Tyr1822delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "C", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000496570.2:p.Gln910_Tyr1885delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "T", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "T", "end": 3073, "referenceAllele": "C", "start": 3072 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.2587C>T" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Gln863Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Gln863_Tyr1816delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "T", "end": 756, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 756, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "T", "end": 798, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 798, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "C", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln910Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2728C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.2728C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln910Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln910Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln910_Tyr1884delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "T", "end": 789, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 789, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "T", "end": 2792, "referenceAllele": "C", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Gln910Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Gln910_Ser1399delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln910Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "T", "end": 2829, "referenceAllele": "C", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*2511C>T" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*2511C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.788-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:n.788-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.2728C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln910Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln910_Tyr1884delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" 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"http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "T", "end": 412, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 412, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.413-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:n.413-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.788-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:n.788-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "T", "end": 2819, "referenceAllele": "C", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.2587C>T" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:p.Gln863Ter", "hgvsWellDefined": "ENSP00000418775.1:p.Gln863_Tyr1816delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247204" }, { "coordinates": [ { "allele": "T", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.5:c.647-1771C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.1:n.647-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247288" }, { "coordinates": [ { "allele": "T", "end": 148, "endIntronDirection": "-", "endIntronOffset": 28851, "referenceAllele": "C", "start": 148, "startIntronDirection": "-", "startIntronOffset": 28852 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.5-28852C>T" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.5-28852C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "-", "endIntronOffset": 18281, "referenceAllele": "C", "start": 59, "startIntronDirection": "-", "startIntronOffset": 18282 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-18282C>T" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-18282C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "+", "endIntronOffset": 32468, "referenceAllele": "C", "start": 59, "startIntronDirection": "+", "startIntronOffset": 32467 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+32468C>T" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+32468C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "@id": "http://reg.genome.network/allele/PA327834", "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.2728C>T", "LRG_292t1:c.2728C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln910Ter", "hgvsWellDefined": "NP_009225.1:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829691689", "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.2587C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln863Ter", "hgvsWellDefined": "NP_009228.2:p.Gln863_Tyr1816delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "T", "end": 806, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 806, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-1771C>T" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-1771C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA915998474", "coordinates": [ { "allele": "T", "end": 2960, "referenceAllele": "C", "start": 2959 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.2728C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln910Ter", "hgvsWellDefined": "NP_009231.2:p.Gln910_Tyr1884delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "T", "end": 2864, "referenceAllele": "C", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.2864C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA327834", "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "C", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.2728C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln910Ter", "hgvsWellDefined": "NP_009225.1:p.Gln910_Tyr1863delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2728C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.2728C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln910Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln910Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829691689", "coordinates": [ { "allele": "T", "end": 2781, "referenceAllele": "C", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.2587C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln863Ter", "hgvsWellDefined": "NP_009228.2:p.Gln863_Tyr1816delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "T", "end": 894, "endIntronDirection": "-", "endIntronOffset": 1770, "referenceAllele": "C", "start": 894, "startIntronDirection": "-", "startIntronOffset": 1771 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-1771C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA915998474", "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "C", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.2728C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln910Ter", "hgvsWellDefined": "NP_009231.2:p.Gln910_Tyr1884delinsGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "T", "end": 2905, "referenceAllele": "C", "start": 2904 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.2905C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }