{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA002190", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46084[alleleid]", "alleleId": 46084, "preferredName": "NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37528", "RCV": [ "RCV000031109", "RCV000236909", "RCV000496618", "RCV001180645" ], "variationId": 37528 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41244159G>C?assembly=hg19", "id": "chr17:g.41244159G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43092142G>C?assembly=hg38", "id": "chr17:g.43092142G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80357405", "rs": 80357405 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 43092142, "referenceAllele": "G", "start": 43092141 } ], "hgvs": [ "NC_000017.11:g.43092142G>C", "CM000679.2:g.43092142G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 41244159, "referenceAllele": "G", "start": 41244158 } ], "hgvs": [ "NC_000017.10:g.41244159G>C", "CM000679.1:g.41244159G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 38497685, "referenceAllele": "G", "start": 38497684 } ], "hgvs": [ "NC_000017.9:g.38497685G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 125842, "referenceAllele": "C", "start": 125841 } ], "hgvs": [ "NG_005905.2:g.125842C>G", "LRG_292:g.125842C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3453, "referenceAllele": "C", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.3453C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "G", "end": 3508, "referenceAllele": "C", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Ser1130Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "G", "end": 3570, "referenceAllele": "C", "start": 3569 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Ser1130Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "G", "end": 3376, "referenceAllele": "C", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.3263C>G" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Ser1088Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "G", "end": 3495, "referenceAllele": "C", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.3386C>G" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Ser1129Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "G", "end": 3424, "referenceAllele": "C", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.3311C>G" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Ser1104Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Ser1104_Tyr1837delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "G", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "G", "end": 3470, "referenceAllele": "C", "start": 3469 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.3311C>G" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Ser1104Ter", "hgvsWellDefined": "ENSP00000420781.2:p.Ser1104_Tyr1837delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "G", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "G", "end": 3582, "referenceAllele": "C", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000419103.2:p.Ser1130_Tyr1863delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "G", "end": 2749, "referenceAllele": "C", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.2501C>G" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Ser834Ter", "hgvsWellDefined": "ENSP00000418986.2:p.Ser834_Tyr1567delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "G", "end": 4036, "referenceAllele": "C", "start": 4035 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Ser1130_Tyr1863delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "G", "end": 3405, "referenceAllele": "C", "start": 3404 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.3266C>G" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Ser1089Ter", "hgvsWellDefined": "ENSP00000489431.2:p.Ser1089_Tyr1822delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "G", "end": 3502, "referenceAllele": "C", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000496570.2:p.Ser1130_Tyr1885delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "G", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "G", "end": 3734, "referenceAllele": "C", "start": 3733 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.3248C>G" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Ser1083Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Ser1083_Tyr1816delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "G", "end": 756, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 756, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "G", "end": 798, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 798, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "G", "end": 3502, "referenceAllele": "C", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Ser1130_Tyr1863delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3389C>G" }, "RefSeq": { "hgvs": "NM_007294.4:c.3389C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Ser1130Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Ser1130Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 3621, "referenceAllele": "C", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Ser1130_Tyr1884delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "G", "end": 789, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 789, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "G", "end": 3453, "referenceAllele": "C", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Ser1130Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Ser1130_Ser1399delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "G", "end": 3508, "referenceAllele": "C", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Ser1130Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.3389C>G" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Ser1130Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "G", "end": 412, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 412, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.413-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:n.413-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "G", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.788-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:n.788-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { 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"ENSP00000418775.1:p.Ser1083_Tyr1816delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247204" }, { "coordinates": [ { "allele": "G", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.5:c.647-1110C>G" ], "proteinEffect": { "hgvs": "ENSP00000418819.1:n.647-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247288" }, { "coordinates": [ { "allele": "G", "end": 148, "endIntronDirection": "-", "endIntronOffset": 28190, "referenceAllele": "C", "start": 148, "startIntronDirection": "-", "startIntronOffset": 28191 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.5-28191C>G" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.5-28191C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "G", "end": 59, "endIntronDirection": "-", "endIntronOffset": 17620, "referenceAllele": "C", "start": 59, "startIntronDirection": "-", "startIntronOffset": 17621 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-17621C>G" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-17621C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "G", "end": 59, "endIntronDirection": "+", "endIntronOffset": 33129, "referenceAllele": "C", "start": 59, "startIntronDirection": "+", "startIntronOffset": 33128 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+33129C>G" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+33129C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "@id": "http://reg.genome.network/allele/PA260679", "coordinates": [ { "allele": "G", "end": 3621, "referenceAllele": "C", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.3389C>G", "LRG_292t1:c.3389C>G" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Ser1130Ter", "hgvsWellDefined": "NP_009225.1:p.Ser1130_Tyr1863delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829692681", "coordinates": [ { "allele": "G", "end": 3529, "referenceAllele": "C", "start": 3528 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.3248C>G" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Ser1083Ter", "hgvsWellDefined": "NP_009228.2:p.Ser1083_Tyr1816delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "G", "end": 806, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 806, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-1110C>G" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "G", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-1110C>G" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA915999492", "coordinates": [ { "allele": "G", "end": 3621, "referenceAllele": "C", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.3389C>G" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Ser1130Ter", "hgvsWellDefined": "NP_009231.2:p.Ser1130_Tyr1884delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "G", "end": 3525, "referenceAllele": "C", "start": 3524 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.3525C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA260679", "coordinates": [ { "allele": "G", "end": 3502, "referenceAllele": "C", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.3389C>G" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Ser1130Ter", "hgvsWellDefined": "NP_009225.1:p.Ser1130_Tyr1863delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3389C>G" }, "RefSeq": { "hgvs": "NM_007294.4:c.3389C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Ser1130Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Ser1130Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829692681", "coordinates": [ { "allele": "G", "end": 3442, "referenceAllele": "C", "start": 3441 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.3248C>G" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Ser1083Ter", "hgvsWellDefined": "NP_009228.2:p.Ser1083_Tyr1816delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "G", "end": 894, "endIntronDirection": "-", "endIntronOffset": 1109, "referenceAllele": "C", "start": 894, "startIntronDirection": "-", "startIntronOffset": 1110 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-1110C>G" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1110C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA915999492", "coordinates": [ { "allele": "G", "end": 3502, "referenceAllele": "C", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.3389C>G" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Ser1130Ter", "hgvsWellDefined": "NP_009231.2:p.Ser1130_Tyr1884delinsAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "G", "end": 3566, "referenceAllele": "C", "start": 3565 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.3566C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }