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"ENSP00000419481.2:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer;Cys44_Tyr717delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "TT", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000514849.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheValSerValSerIleCysIleSerLeuMetThrLysThrTer;Cys44_Thr544delinsLysSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheValSerValSerIleCysIleSerLeuMetThrLysThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "TT", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700183.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000514850.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000514850.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysValLeuLeuCysCysProSerTrpSerThrValValArgSerTer;Cys44_Ser59delinsLysValLeuLeuCysCysProSerTrpSerThrValValArgSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS911032" }, { "coordinates": [ { "allele": "TT", "end": 310, "referenceAllele": "AG", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700184.1:n.309_310delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS911033" }, { "coordinates": [ { "allele": "TT", "end": 186, "referenceAllele": "AG", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700185.1:n.185_186delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS911034" }, { "coordinates": [ { "allele": "TT", "end": 186, "referenceAllele": "AG", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700186.1:n.185_186delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS911035" }, { "coordinates": [ { "allele": "TT", "end": 180, "referenceAllele": "AG", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.66_67delinsTT" }, "RefSeq": { "hgvs": "NM_007294.4:c.66_67delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Leu22PhefsTer2" }, "RefSeq": { "hgvs": "NP_009225.1:p.Leu22PhefsTer2" } } } }, { "coordinates": [ { "allele": "TT", "end": 299, "referenceAllele": "AG", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "TT", "end": 153, "referenceAllele": "AG", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000642945.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000495897.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000495897.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysGlnCysLeuProLeuThrProArgLeuGluPheSerGlyValIleIleValHisPheTyrLeuAlaIleTrpValGlnAlaIleSerHisLeuSerProSerSerSerTer;Cys44_Ser81delinsLysGlnCysLeuProLeuThrProArgLeuGluPheSerGlyValIleIleValHisPheTyrLeuAlaIleTrpValGlnAlaIleSerHisLeuSerProSerSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767005" }, { "coordinates": [ { "allele": "TT", "end": 142, "referenceAllele": "AG", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.1:c.-221_-220delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000494614.1:n.-221_-220delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS767880" }, { "coordinates": [ { "allele": "TT", "end": 293, "referenceAllele": "AG", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.1:c.-195_-194delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000498906.1:n.-195_-194delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS772344" }, { "coordinates": [ { "allele": "TT", "end": 186, "referenceAllele": "AG", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000312236.5:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer;Cys44_Tyr721delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "TT", "end": 131, "referenceAllele": "AG", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "TT", "end": 186, "referenceAllele": "AG", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "TT", "end": 193, "referenceAllele": "AG", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000418548.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuTer;Cys44_Leu63delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "TT", "end": 180, "referenceAllele": "AG", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461798.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000417988.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000417988.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuTer;Cys44_Leu63delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS306225" }, { "coordinates": [ { "allele": "TT", "end": 261, "referenceAllele": "AG", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000417148.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer;Cys44_Val699delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "TT", "end": 228, "referenceAllele": "AG", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000419274.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000419274.1:p.[Leu22_Ile42del;Cys44_Glu649del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247411" }, { "coordinates": [ { "allele": "TT", "end": 299, "referenceAllele": "AG", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS247116" }, { "coordinates": [ { "allele": "TT", "end": 169, "referenceAllele": "AG", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000417554.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000417554.1:p.[Leu22_Ile42del;Cys44Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247422" }, { "coordinates": [ { "allele": "TT", "end": 180, "referenceAllele": "AG", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000419988.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000419988.1:p.[Leu22_Ile42del;Cys44Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247275" }, { "coordinates": [ { "allele": "TT", "end": 169, "referenceAllele": "AG", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000420412.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000420412.1:p.[Leu22_Ile42del;Cys44Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247368" }, { "coordinates": [ { "allele": "TT", "end": 226, "referenceAllele": "AG", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000420781.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000420781.1:p.[Leu22_Ile42del;Cys44Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247199" }, { "coordinates": [ { "allele": "TT", "end": 166, "referenceAllele": "AG", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:p.Leu22PhefsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "TT", "end": 116, "referenceAllele": "AG", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000492859.5:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000420253.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000420253.1:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysValLeuLeuCysCysProSerTrpSerThrValValArgSerTer;Cys44_Ser59delinsLysValLeuLeuCysCysProSerTrpSerThrValValArgSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS330151" }, { "coordinates": [ { "allele": "TT", "end": 212, "referenceAllele": "AG", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.-22_-21delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:n.-22_-21delinsTT" }, 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"referenceAllele": "AG", "start": 30, "startIntronDirection": "+", "startIntronOffset": 1239 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.1:c.-219+1240_-219+1241delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000418986.1:n.-219+1240_-219+1241delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS247128" }, { "coordinates": [ { "allele": "TT", "end": 148, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "AG", "start": 148, "startIntronDirection": "+", "startIntronOffset": 1150 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.4+1151_4+1152delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.4+1151_4+1152delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "TT", "end": 59, "endIntronDirection": "+", "endIntronOffset": 1241, "referenceAllele": "AG", "start": 59, "startIntronDirection": "+", "startIntronOffset": 1239 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-44+1240_-44+1241delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-44+1240_-44+1241delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "TT", "end": 59, "endIntronDirection": "+", "endIntronOffset": 1241, "referenceAllele": "AG", "start": 59, "startIntronDirection": "+", "startIntronOffset": 1239 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+1240_-99+1241delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+1240_-99+1241delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "coordinates": [ { "allele": "TT", "end": 714, "referenceAllele": "AG", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000478114.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000478114.1:p.Leu22_Glu23delinsPhe" }, "referenceSequence": "http://reg.genome.network/refseq/RS403945" }, { "coordinates": [ { "allele": "TT", "end": 206, "referenceAllele": "AG", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000489431.1:p.Leu22PhefsTer2", "hgvsWellDefined": "ENSP00000489431.1:p.[Leu22_Ile42del;Cys44Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407823" }, { "coordinates": [ { "allele": "TT", "end": 299, "referenceAllele": "AG", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.66_67delinsTT", "LRG_292t1:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "coordinates": [ { "allele": "TT", "end": 261, "referenceAllele": "AG", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.-22_-21delinsTT" ], "proteinEffect": { "hgvs": "NP_009228.2:n.-22_-21delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "TT", "end": 86, "referenceAllele": "AG", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009229.2:p.Leu22PhefsTer2", "hgvsWellDefined": "NP_009229.2:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer;Cys44_Tyr759delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "TT", "end": 261, "referenceAllele": "AG", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Leu22PhefsTer2", "hgvsWellDefined": "NP_009230.2:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer;Cys44_Val699delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "coordinates": [ { "allele": "TT", "end": 299, "referenceAllele": "AG", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "TT", "end": 228, "referenceAllele": "AG", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.227_228delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "coordinates": [ { "allele": "TT", "end": 180, "referenceAllele": "AG", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.66_67delinsTT" }, "RefSeq": { "hgvs": "NM_007294.4:c.66_67delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Leu22PhefsTer2" }, "RefSeq": { "hgvs": "NP_009225.1:p.Leu22PhefsTer2" } } } }, { "coordinates": [ { "allele": "TT", "end": 174, "referenceAllele": "AG", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.-22_-21delinsTT" ], "proteinEffect": { "hgvs": "NP_009228.2:n.-22_-21delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "TT", "end": 174, "referenceAllele": "AG", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Leu22PhefsTer2", "hgvsWellDefined": "NP_009230.2:p.[Leu22_Ile42delinsGluCysProIleCysLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCysLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer;Cys44_Val699delinsLysPheCysMetLeuLysLeuLeuAsnGlnLysLysGlyProSerGlnCysProLeuCysLysAsnAspIleThrLysArgSerLeuGlnGluSerThrArgPheSerGlnLeuValGluGluLeuLeuLysIleIleCysAlaPheGlnLeuAspThrGlyLeuGluTyrAlaAsnSerTyrAsnPheAlaLysLysGluAsnAsnSerProGluHisLeuLysAspGluValSerIleIleGlnSerMetGlyTyrArgAsnArgAlaLysArgLeuLeuGlnSerGluProGluAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "coordinates": [ { "allele": "TT", "end": 180, "referenceAllele": "AG", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.66_67delinsTT" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Leu22PhefsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "TT", "end": 269, "referenceAllele": "AG", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.268_269delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }