{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA002296", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69596[alleleid]", "alleleId": 69596, "preferredName": "NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54929", "RCV": [ "RCV000048245", "RCV000077552", "RCV000131819", "RCV000159977", "RCV000763003", "RCV001001611", "RCV004554663" ], "variationId": 54929 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41243950G>A?assembly=hg19", "id": "chr17:g.41243950G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43091933G>A?assembly=hg38", "id": "chr17:g.43091933G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/62625307", "rs": 62625307 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41243950-G-A?dataset=gnomad_r2_1", "id": "17-41243950-G-A", "variant": "17:41243950 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-43091933-G-A?dataset=gnomad_r4", "id": "17-43091933-G-A", "variant": "17:43091933 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 43091933, "referenceAllele": "G", "start": 43091932 } ], "hgvs": [ "NC_000017.11:g.43091933G>A", "CM000679.2:g.43091933G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41243950, "referenceAllele": "G", "start": 41243949 } ], "hgvs": [ "NC_000017.10:g.41243950G>A", "CM000679.1:g.41243950G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 38497476, "referenceAllele": "G", "start": 38497475 } ], "hgvs": [ "NC_000017.9:g.38497476G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 126051, "referenceAllele": "C", "start": 126050 } ], "hgvs": [ "NG_005905.2:g.126051C>T", "LRG_292:g.126051C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "C", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.3662C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "T", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000417241.2:p.Gln1200_Tyr1862delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "T", "end": 3779, "referenceAllele": "C", "start": 3778 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000419274.2:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "T", "end": 3585, "referenceAllele": "C", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.3472C>T" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Gln1158Ter", "hgvsWellDefined": "ENSP00000420201.2:p.Gln1158_Tyr1821delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "T", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.3595C>T" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Gln1199Ter", "hgvsWellDefined": "ENSP00000417554.2:p.Gln1199_Tyr1861delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "T", "end": 3633, "referenceAllele": "C", "start": 3632 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.3520C>T" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Gln1174Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Gln1174_Tyr1837delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "T", "end": 3679, "referenceAllele": "C", "start": 3678 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.3520C>T" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Gln1174Ter", "hgvsWellDefined": "ENSP00000420781.2:p.Gln1174_Tyr1837delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "T", "end": 878, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "C", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000419103.2:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "T", "end": 2958, "referenceAllele": "C", "start": 2957 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.2710C>T" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Gln904Ter", "hgvsWellDefined": "ENSP00000418986.2:p.Gln904_Tyr1567delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "T", "end": 4245, "referenceAllele": "C", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "T", "end": 3614, "referenceAllele": "C", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.3475C>T" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Gln1159Ter", "hgvsWellDefined": "ENSP00000489431.2:p.Gln1159_Tyr1822delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000496570.2:p.Gln1200_Tyr1885delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "T", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "T", "end": 3943, "referenceAllele": "C", "start": 3942 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.3457C>T" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Gln1153Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Gln1153_Tyr1816delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "T", "end": 756, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 756, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "T", "end": 798, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 798, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3598C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.3598C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln1200Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln1200Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln1200_Tyr1884delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "T", "end": 789, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 789, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "C", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Gln1200_Ser1399delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "T", "end": 3717, "referenceAllele": "C", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "T", "end": 3699, "referenceAllele": "C", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*3381C>T" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*3381C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.788-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:n.788-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.3598C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln1200Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln1200_Tyr1884delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247116" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.5:c.785-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.1:n.785-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247368" }, { "coordinates": [ { "allele": "T", "end": 409, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 409, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.5:c.410-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.1:n.410-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "T", "end": 412, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 412, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.413-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:n.413-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.788-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:n.788-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "T", "end": 3689, "referenceAllele": "C", "start": 3688 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.3457C>T" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:p.Gln1153Ter", "hgvsWellDefined": "ENSP00000418775.1:p.Gln1153_Tyr1816delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247204" }, { "coordinates": [ { "allele": "T", "end": 878, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.5:c.647-901C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.1:n.647-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247288" }, { "coordinates": [ { "allele": "T", "end": 148, "endIntronDirection": "-", "endIntronOffset": 27981, "referenceAllele": "C", "start": 148, "startIntronDirection": "-", "startIntronOffset": 27982 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.5-27982C>T" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.5-27982C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "-", "endIntronOffset": 17411, "referenceAllele": "C", "start": 59, "startIntronDirection": "-", "startIntronOffset": 17412 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-17412C>T" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-17412C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "+", "endIntronOffset": 33338, "referenceAllele": "C", "start": 59, "startIntronDirection": "+", "startIntronOffset": 33337 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+33338C>T" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+33338C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "@id": "http://reg.genome.network/allele/PA168804", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.3598C>T", "LRG_292t1:c.3598C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln1200Ter", "hgvsWellDefined": "NP_009225.1:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829693076", "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "C", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.3457C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln1153Ter", "hgvsWellDefined": "NP_009228.2:p.Gln1153_Tyr1816delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "T", "end": 806, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 806, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-901C>T" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-901C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA915999816", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.3598C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln1200Ter", "hgvsWellDefined": "NP_009231.2:p.Gln1200_Tyr1884delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "T", "end": 3734, "referenceAllele": "C", "start": 3733 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.3734C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA168804", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.3598C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln1200Ter", "hgvsWellDefined": "NP_009225.1:p.Gln1200_Tyr1863delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.3598C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.3598C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln1200Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln1200Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829693076", "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "C", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.3457C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln1153Ter", "hgvsWellDefined": "NP_009228.2:p.Gln1153_Tyr1816delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "T", "end": 894, "endIntronDirection": "-", "endIntronOffset": 900, "referenceAllele": "C", "start": 894, "startIntronDirection": "-", "startIntronOffset": 901 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-901C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA915999816", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.3598C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln1200Ter", "hgvsWellDefined": "NP_009231.2:p.Gln1200_Tyr1884delinsGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "T", "end": 3775, "referenceAllele": "C", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.3775C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }