{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA298444", "communityStandardTitle": [ "NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179970[alleleid]", "alleleId": 179970, "preferredName": "NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182036", "RCV": [ "RCV000159805", "RCV000213814", "RCV000471276", "RCV001030673", "RCV001293502", "RCV003162672" ], "variationId": 182036 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-215646150-G-A", "id": "2-215646150-G-A", "variant": "2:215646150 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.215646150G>A?assembly=hg19", "id": "chr2:g.215646150G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.214781426G>A?assembly=hg38", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS761932" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000617164.5:c.391C>T" ], "proteinEffect": { "hgvs": "ENSP00000480470.1:p.Arg131Ter", "hgvsWellDefined": 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"ENSP00000480470.1:p.Arg131_Ser758delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403362" }, { "coordinates": [ { "allele": "T", "end": 506, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 506, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000619009.4:c.364+10871C>T" ], "proteinEffect": { "hgvs": "ENSP00000482293.1:n.364+10871C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS404187" }, { "coordinates": [ { "allele": "T", "end": 437, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 437, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000620057.4:c.364+10871C>T" ], "proteinEffect": { "hgvs": "ENSP00000481988.1:n.364+10871C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS404652" }, { "@id": "http://reg.genome.network/allele/PA298445", "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.3:c.448C>T" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Arg150Ter", "hgvsWellDefined": "NP_000456.2:p.Arg150_Ser777delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006526" }, { "@id": "http://reg.genome.network/allele/PA2826650925", "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.1:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Arg131Ter", "hgvsWellDefined": "NP_001269472.1:p.Arg131_Ser758delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022030" }, { "coordinates": [ { "allele": "T", "end": 357, "endIntronDirection": "+", "endIntronOffset": 15635, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 15634 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.1:c.215+15635C>T" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+15635C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022032" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 27986, "referenceAllele": "C", "start": 300, "startIntronDirection": "+", "startIntronOffset": 27985 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.1:c.158+27986C>T" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+27986C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022035" }, { "coordinates": [ { "allele": "T", "end": 506, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 506, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.1:c.364+10871C>T" ], "proteinEffect": { "hgvs": "NP_001269478.1:n.364+10871C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022036" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.1:n.441C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053302" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.1:n.384C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053305" }, { "coordinates": [ { "allele": "T", "end": 506, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 506, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.1:n.506+10871C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053306" }, { "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511567.1:c.394C>T" ], "proteinEffect": { "hgvs": "XP_011509869.1:p.Arg132Ter", "hgvsWellDefined": "XP_011509869.1:p.Arg132_Ser759delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078828" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511568.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011509870.1:p.Arg150Ter", "hgvsWellDefined": "XP_011509870.1:p.Arg150_Ser642delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078829" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004613.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_016860102.1:p.Arg183Ter", "hgvsWellDefined": "XP_016860102.1:p.Arg183_Ser810delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560077" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004614.1:c.547C>T" ], "proteinEffect": { "hgvs": "XP_016860103.1:p.Arg183Ter", "hgvsWellDefined": "XP_016860103.1:p.Arg183_Ser675delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560078" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XR_002959322.1:n.638C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605255" }, { "@id": "http://reg.genome.network/allele/PA298445", "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.4:c.448C>T" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Arg150Ter", "hgvsWellDefined": "NP_000456.2:p.Arg150_Ser777delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260947.9:c.448C>T" }, "RefSeq": { "hgvs": "NM_000465.4:c.448C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260947.4:p.Arg150Ter" }, "RefSeq": { "hgvs": "NP_000456.2:p.Arg150Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826650925", "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "C", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.2:c.391C>T" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Arg131Ter", "hgvsWellDefined": "NP_001269472.1:p.Arg131_Ser758delinsSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681812" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "+", "endIntronOffset": 15635, "referenceAllele": "C", "start": 329, "startIntronDirection": "+", "startIntronOffset": 15634 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.2:c.215+15635C>T" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+15635C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681814" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "+", "endIntronOffset": 27986, "referenceAllele": "C", "start": 272, "startIntronDirection": "+", "startIntronOffset": 27985 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.2:c.158+27986C>T" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+27986C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681817" }, { "coordinates": [ { "allele": "T", "end": 478, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 478, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.2:c.364+10871C>T" ], "proteinEffect": { "hgvs": "NP_001269478.1:n.364+10871C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681818" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.2:n.413C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702953" }, { "coordinates": [ { "allele": "T", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.2:n.356C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702955" }, { "coordinates": [ { "allele": "T", "end": 478, "endIntronDirection": "+", "endIntronOffset": 10871, "referenceAllele": "C", "start": 478, "startIntronDirection": "+", "startIntronOffset": 10870 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.2:n.478+10871C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702956" } ], "type": "nucleotide" }