{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA001915", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46049[alleleid]", "alleleId": 46049, "preferredName": "NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37493", "RCV": [ "RCV000031074", "RCV000048017", "RCV000162860", "RCV000195361", "RCV001353980" ], "variationId": 37493 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41244614A>C?assembly=hg19", "id": "chr17:g.41244614A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43092597A>C?assembly=hg38", "id": "chr17:g.43092597A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80357115", "rs": 80357115 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-43092597-A-C?dataset=gnomad_r4", "id": "17-43092597-A-C", "variant": "17:43092597 A / C" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 43092597, "referenceAllele": "A", "start": 43092596 } ], "hgvs": [ "NC_000017.11:g.43092597A>C", "CM000679.2:g.43092597A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 41244614, "referenceAllele": "A", "start": 41244613 } ], "hgvs": [ "NC_000017.10:g.41244614A>C", "CM000679.1:g.41244614A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 38498140, "referenceAllele": "A", "start": 38498139 } ], "hgvs": [ "NC_000017.9:g.38498140A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 125387, "referenceAllele": "T", "start": 125386 } ], "hgvs": [ "NG_005905.2:g.125387T>G", "LRG_292:g.125387T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2998, "referenceAllele": "T", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.2998T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "G", "end": 3053, "referenceAllele": "T", "start": 3052 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000417241.2:p.Tyr978_Tyr1862delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "G", "end": 3115, "referenceAllele": "T", "start": 3114 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000419274.2:p.Tyr978_Tyr1863delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "G", "end": 2921, "referenceAllele": "T", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.2808T>G" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Tyr936Ter", "hgvsWellDefined": "ENSP00000420201.2:p.Tyr936_Tyr1821delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "G", "end": 3040, "referenceAllele": "T", "start": 3039 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.2931T>G" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Tyr977Ter", "hgvsWellDefined": "ENSP00000417554.2:p.Tyr977_Tyr1861delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "G", "end": 2969, "referenceAllele": "T", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.2856T>G" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Tyr952Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Tyr952_Tyr1837delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "G", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "G", "end": 3015, "referenceAllele": "T", "start": 3014 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.2856T>G" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Tyr952Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "G", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "G", "end": 3127, "referenceAllele": "T", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Tyr978Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "G", "end": 2294, "referenceAllele": "T", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.2046T>G" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Tyr682Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "G", "end": 3581, "referenceAllele": "T", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Tyr978_Tyr1863delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "G", "end": 2950, "referenceAllele": "T", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.2811T>G" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Tyr937Ter", "hgvsWellDefined": "ENSP00000489431.2:p.Tyr937_Tyr1822delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "T", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000496570.2:p.Tyr978_Tyr1885delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "G", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "G", "end": 3279, "referenceAllele": "T", "start": 3278 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.2793T>G" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Tyr931Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Tyr931_Tyr1816delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "G", "end": 756, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 756, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "G", "end": 798, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 798, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "T", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Tyr978_Tyr1863delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2934T>G" }, "RefSeq": { "hgvs": "NM_007294.4:c.2934T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Tyr978Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Tyr978Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 3166, "referenceAllele": "T", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Tyr978_Tyr1884delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "G", "end": 789, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 789, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "G", "end": 2998, "referenceAllele": "T", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Tyr978_Ser1399delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "G", "end": 3053, "referenceAllele": "T", "start": 3052 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Tyr978_Tyr1863delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "G", "end": 3035, "referenceAllele": "T", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*2717T>G" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*2717T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "G", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.788-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:n.788-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "G", "end": 3166, "referenceAllele": "T", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.2934T>G" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Tyr978Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Tyr978_Tyr1884delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247116" }, { "coordinates": [ { "allele": "G", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.5:c.785-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000420412.1:n.785-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247368" }, { "coordinates": [ { "allele": "G", "end": 409, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 409, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.5:c.410-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000419481.1:n.410-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "G", "end": 412, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 412, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.413-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:n.413-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "G", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.788-1565T>G" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:n.788-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { 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"http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "G", "end": 59, "endIntronDirection": "-", "endIntronOffset": 18075, "referenceAllele": "T", "start": 59, "startIntronDirection": "-", "startIntronOffset": 18076 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-18076T>G" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-18076T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "G", "end": 59, "endIntronDirection": "+", "endIntronOffset": 32674, "referenceAllele": "T", "start": 59, "startIntronDirection": "+", "startIntronOffset": 32673 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+32674T>G" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+32674T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829692008", "coordinates": [ { "allele": "G", "end": 3074, "referenceAllele": "T", "start": 3073 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.2793T>G" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Tyr931Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "G", "end": 806, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 806, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-1565T>G" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "G", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-1565T>G" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA915998914", "coordinates": [ { "allele": "G", "end": 3166, "referenceAllele": "T", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.2934T>G" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Tyr978Ter", "hgvsWellDefined": "NP_009231.2:p.Tyr978_Tyr1884delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "G", "end": 3070, "referenceAllele": "T", "start": 3069 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.3070T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA187113", "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "T", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.2934T>G" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Tyr978Ter", "hgvsWellDefined": "NP_009225.1:p.Tyr978_Tyr1863delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2934T>G" }, "RefSeq": { "hgvs": "NM_007294.4:c.2934T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Tyr978Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Tyr978Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829692008", "coordinates": [ { "allele": "G", "end": 2987, "referenceAllele": "T", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.2793T>G" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Tyr931Ter", "hgvsWellDefined": "NP_009228.2:p.Tyr931_Tyr1816delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "G", "end": 894, "endIntronDirection": "-", "endIntronOffset": 1564, "referenceAllele": "T", "start": 894, "startIntronDirection": "-", "startIntronOffset": 1565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-1565T>G" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1565T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA915998914", "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "T", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.2934T>G" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Tyr978Ter", "hgvsWellDefined": "NP_009231.2:p.Tyr978_Tyr1884delinsArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "G", "end": 3111, "referenceAllele": "T", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.3111T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }