{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA002941", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69915[alleleid]", "alleleId": 69915, "preferredName": "NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55248", "RCV": [ "RCV000577493", "RCV000660995", "RCV001384584", "RCV002326776" ], "variationId": 55248 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41251876G>A?assembly=hg19", "id": "chr17:g.41251876G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43099859G>A?assembly=hg38", "id": "chr17:g.43099859G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80357180", "rs": 80357180 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 43099859, "referenceAllele": "G", "start": 43099858 } ], "hgvs": [ "NC_000017.11:g.43099859G>A", "CM000679.2:g.43099859G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41251876, "referenceAllele": "G", "start": 41251875 } ], "hgvs": [ "NC_000017.10:g.41251876G>A", "CM000679.1:g.41251876G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 38505402, "referenceAllele": "G", "start": 38505401 } ], "hgvs": [ "NC_000017.9:g.38505402G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 118125, "referenceAllele": "C", "start": 118124 } ], "hgvs": [ "NG_005905.2:g.118125C>T", "LRG_292:g.118125C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.527C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Gln154Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Gln154Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Gln129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:p.Gln154Ter", "hgvsWellDefined": "ENSP00000420412.2:p.Gln154_Tyr759delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Gln129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:p.Gln108Ter", "hgvsWellDefined": "ENSP00000418819.2:p.Gln108_Tyr713delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "T", "end": 30, "endIntronDirection": "-", "endIntronOffset": 4998, "referenceAllele": "C", "start": 30, "startIntronDirection": "-", "startIntronOffset": 4999 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.-218-4999C>T" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:n.-218-4999C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:p.Gln108Ter", "hgvsWellDefined": "ENSP00000494614.2:p.Gln108_Tyr713delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:p.Gln155Ter", "hgvsWellDefined": "ENSP00000419481.2:p.Gln155_Tyr717delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000514849.1:p.Gln128_Thr544delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheValSerValSerIleCysIleSerLeuMetThrLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700183.1:c.*377C>T" ], "proteinEffect": { "hgvs": "ENSP00000514850.1:n.*377C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911032" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700184.1:n.703C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911033" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.463C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.463C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln155Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln155Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000642945.1:c.*337C>T" ], "proteinEffect": { "hgvs": "ENSP00000495897.1:n.*337C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767005" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000498906.1:p.Gln108Ter", "hgvsWellDefined": "ENSP00000498906.1:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS772344" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:p.Gln155Ter", "hgvsWellDefined": "ENSP00000312236.5:p.Gln155_Tyr721delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*246C>T" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*246C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461798.5:c.*249C>T" ], "proteinEffect": { "hgvs": "ENSP00000417988.1:n.*249C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS306225" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000417148.1:p.Gln155_Val699delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000419274.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000419274.1:p.Gln155_Glu649del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247411" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247116" }, { "coordinates": [ { "allele": "T", "end": 183, "referenceAllele": "C", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.5:c.183C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247258" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.5:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000417554.1:p.Gln154Ter", "hgvsWellDefined": "ENSP00000417554.1:p.Gln154Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247422" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.5:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000419988.1:p.Gln129Ter", "hgvsWellDefined": "ENSP00000419988.1:p.Gln129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247275" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.5:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.1:p.Gln154Ter", "hgvsWellDefined": "ENSP00000420412.1:p.Gln154Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247368" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.5:c.208C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.1:p.Gln70Ter", "hgvsWellDefined": "ENSP00000419481.1:p.Gln70Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000487825.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000418212.1:p.Gln71Ter", "hgvsWellDefined": "ENSP00000418212.1:p.Gln71Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247188" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:p.Gln155Ter", "hgvsWellDefined": "ENSP00000420705.2:p.Gln155_Tyr759delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000492859.5:c.*399C>T" ], "proteinEffect": { "hgvs": "ENSP00000420253.1:n.*399C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS330151" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247204" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.5:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.1:p.Gln108Ter", "hgvsWellDefined": "ENSP00000418819.1:p.Gln108_Ser572del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247288" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000419103.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000419103.1:p.Gln155_Asn473del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247274" }, { "coordinates": [ { "allele": "T", "end": 30, "endIntronDirection": "-", "endIntronOffset": 4998, "referenceAllele": "C", "start": 30, "startIntronDirection": "-", "startIntronOffset": 4999 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.1:c.-218-4999C>T" ], "proteinEffect": { "hgvs": "ENSP00000418986.1:n.-218-4999C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247128" }, { "coordinates": [ { "allele": "T", "end": 148, "endIntronDirection": "+", "endIntronOffset": 25323, "referenceAllele": "C", "start": 148, "startIntronDirection": "+", "startIntronOffset": 25322 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.4+25323C>T" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.4+25323C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "-", "endIntronOffset": 25337, "referenceAllele": "C", "start": 59, "startIntronDirection": "-", "startIntronOffset": 25338 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-25338C>T" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-25338C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "+", "endIntronOffset": 25412, "referenceAllele": "C", "start": 59, "startIntronDirection": "+", "startIntronOffset": 25411 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+25412C>T" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+25412C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.1:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000489431.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000489431.1:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407823" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.463C>T", "LRG_292t1:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.322C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "@id": "http://reg.genome.network/allele/PA2829699663", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009229.2:p.Gln155Ter", "hgvsWellDefined": "NP_009229.2:p.Gln155_Tyr759delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "@id": "http://reg.genome.network/allele/PA2829711283", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Gln155Ter", "hgvsWellDefined": "NP_009230.2:p.Gln155_Val699delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.463C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.463C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln155Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln155Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.322C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "@id": "http://reg.genome.network/allele/PA2829711283", "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Gln155Ter", "hgvsWellDefined": "NP_009230.2:p.Gln155_Val699delinsLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.463C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln155Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }