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"NP_000456.2:p.Leu211_Ser777delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006526" }, { "@id": "http://reg.genome.network/allele/PA2826651129", "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "T", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.1:c.575T>A" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Leu192Ter", "hgvsWellDefined": "NP_001269472.1:p.Leu192_Ser758delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022030" }, { "coordinates": [ { "allele": "A", "end": 357, "endIntronDirection": "+", "endIntronOffset": 15819, "referenceAllele": "T", "start": 357, "startIntronDirection": "+", "startIntronOffset": 15818 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.1:c.215+15819T>A" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+15819T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022032" }, { "coordinates": [ { "allele": "A", "end": 300, "endIntronDirection": "+", "endIntronOffset": 28170, "referenceAllele": "T", "start": 300, "startIntronDirection": "+", "startIntronOffset": 28169 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.1:c.158+28170T>A" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+28170T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022035" }, { "coordinates": [ { "allele": "A", "end": 506, "endIntronDirection": "+", "endIntronOffset": 11055, "referenceAllele": "T", "start": 506, "startIntronDirection": "+", "startIntronOffset": 11054 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.1:c.364+11055T>A" ], "proteinEffect": { "hgvs": "NP_001269478.1:n.364+11055T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022036" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "T", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.1:n.625T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053302" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "T", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.1:n.568T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053305" }, { "coordinates": [ { "allele": "A", "end": 506, "endIntronDirection": "+", "endIntronOffset": 11055, "referenceAllele": "T", "start": 506, "startIntronDirection": "+", "startIntronOffset": 11054 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.1:n.506+11055T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053306" }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "T", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511567.1:c.578T>A" ], "proteinEffect": { "hgvs": "XP_011509869.1:p.Leu193Ter", "hgvsWellDefined": "XP_011509869.1:p.Leu193_Ser759delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078828" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "T", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511568.1:c.632T>A" ], "proteinEffect": { "hgvs": "XP_011509870.1:p.Leu211Ter", "hgvsWellDefined": "XP_011509870.1:p.Leu211_Ser642delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078829" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004613.1:c.731T>A" ], "proteinEffect": { "hgvs": "XP_016860102.1:p.Leu244Ter", "hgvsWellDefined": "XP_016860102.1:p.Leu244_Ser810delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560077" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004614.1:c.731T>A" ], "proteinEffect": { "hgvs": "XP_016860103.1:p.Leu244Ter", "hgvsWellDefined": "XP_016860103.1:p.Leu244_Ser675delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560078" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XR_002959322.1:n.822T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605255" }, { "@id": "http://reg.genome.network/allele/PA658803445", "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.4:c.632T>A" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Leu211Ter", "hgvsWellDefined": "NP_000456.2:p.Leu211_Ser777delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260947.9:c.632T>A" }, "RefSeq": { "hgvs": "NM_000465.4:c.632T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260947.4:p.Leu211Ter" }, "RefSeq": { "hgvs": "NP_000456.2:p.Leu211Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826651129", "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "T", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.2:c.575T>A" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Leu192Ter", "hgvsWellDefined": "NP_001269472.1:p.Leu192_Ser758delinsAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681812" }, { "coordinates": [ { "allele": "A", "end": 329, "endIntronDirection": "+", "endIntronOffset": 15819, "referenceAllele": "T", "start": 329, "startIntronDirection": "+", "startIntronOffset": 15818 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.2:c.215+15819T>A" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+15819T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681814" }, { "coordinates": [ { "allele": "A", "end": 272, "endIntronDirection": "+", "endIntronOffset": 28170, "referenceAllele": "T", "start": 272, "startIntronDirection": "+", "startIntronOffset": 28169 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.2:c.158+28170T>A" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+28170T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681817" }, { "coordinates": [ { "allele": "A", "end": 478, "endIntronDirection": "+", "endIntronOffset": 11055, "referenceAllele": "T", "start": 478, "startIntronDirection": "+", "startIntronOffset": 11054 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.2:c.364+11055T>A" ], "proteinEffect": { "hgvs": "NP_001269478.1:n.364+11055T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681818" }, { "coordinates": [ { "allele": "A", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.2:n.597T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702953" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.2:n.540T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702955" }, { "coordinates": [ { "allele": "A", "end": 478, "endIntronDirection": "+", "endIntronOffset": 11055, "referenceAllele": "T", "start": 478, "startIntronDirection": "+", "startIntronOffset": 11054 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.2:n.478+11055T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702956" } ], "type": "nucleotide" }