{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360947910", "communityStandardTitle": [ "NM_005732.4(RAD50):c.1875C>A (p.Tyr625Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131930642C>A?assembly=hg19", "id": "chr5:g.131930642C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132594950C>A?assembly=hg38", "id": "chr5:g.132594950C>A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 132594950, "referenceAllele": "C", "start": 132594949 } ], "hgvs": [ "NC_000005.10:g.132594950C>A", "CM000667.2:g.132594950C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131930642, "referenceAllele": "C", "start": 131930641 } ], "hgvs": [ "NC_000005.9:g.131930642C>A", "CM000667.1:g.131930642C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131958541, "referenceAllele": "C", "start": 131958540 } ], "hgvs": [ "NC_000005.8:g.131958541C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 43027, "referenceAllele": "C", "start": 43026 } ], "hgvs": [ "NG_021151.1:g.43027C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003445" }, { "coordinates": [ { "allele": "A", "end": 42974, "referenceAllele": "C", "start": 42973 } ], "hgvs": [ "NG_021151.2:g.42974C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706126" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2223, "referenceAllele": "C", "start": 2222 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000378823.8:c.1875C>A" ], "proteinEffect": { "hgvs": "ENSP00000368100.4:p.Tyr625Ter", "hgvsWellDefined": "ENSP00000368100.4:p.Tyr625_His1312delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752139", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378823.8:c.1875C>A" }, "RefSeq": { "hgvs": "NM_005732.4:c.1875C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368100.4:p.Tyr625Ter" }, "RefSeq": { "hgvs": "NP_005723.2:p.Tyr625Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "hgvs": [ "ENST00000638452.2:c.1578C>A" ], "proteinEffect": { "hgvs": "ENSP00000492349.2:p.Tyr526Ter", "hgvsWellDefined": "ENSP00000492349.2:p.Tyr526_His1213delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764537" }, { "coordinates": [ { "allele": "A", "end": 1479, "endIntronDirection": "-", "endIntronOffset": 153, "referenceAllele": "C", "start": 1479, "startIntronDirection": "-", "startIntronOffset": 154 } ], "hgvs": [ "ENST00000638504.1:n.1480-154C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764565" }, { "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "hgvs": [ "ENST00000638568.2:c.1578C>A" ], "proteinEffect": { "hgvs": "ENSP00000491158.2:p.Tyr526Ter", "hgvsWellDefined": "ENSP00000491158.2:p.Tyr526_His1213delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764591" }, { "coordinates": [ { "allele": "A", "end": 2394, "referenceAllele": "C", "start": 2393 } ], "hgvs": [ "ENST00000639899.1:n.2394C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765234" }, { "coordinates": [ { "allele": "A", "end": 2253, "referenceAllele": "C", "start": 2252 } ], "hgvs": [ "ENST00000640655.2:c.1578C>A" ], "proteinEffect": { "hgvs": "ENSP00000491596.2:p.Tyr526Ter", "hgvsWellDefined": "ENSP00000491596.2:p.Tyr526_His1213delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765604" }, { "coordinates": [ { "allele": "A", "end": 2339, "endIntronDirection": "-", "endIntronOffset": 153, "referenceAllele": "C", "start": 2339, "startIntronDirection": "-", "startIntronOffset": 154 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651160.1:c.*16-154C>A" ], "proteinEffect": { "hgvs": "ENSP00000498829.1:n.*16-154C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771500" }, { "coordinates": [ { "allele": "A", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651658.1:n.2418C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771793" }, { "coordinates": [ { "allele": "A", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651723.1:c.*1958C>A" ], "proteinEffect": { "hgvs": "ENSP00000498237.1:n.*1958C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771824" }, { "coordinates": [ { "allele": "A", "end": 2255, "endIntronDirection": "-", "endIntronOffset": 153, "referenceAllele": "C", "start": 2255, "startIntronDirection": "-", "startIntronOffset": 154 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000652016.1:c.*89-154C>A" ], "proteinEffect": { "hgvs": "ENSP00000498267.1:n.*89-154C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771980" }, { "coordinates": [ { "allele": "A", "end": 2252, "referenceAllele": "C", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000652485.1:c.1908C>A" ], "proteinEffect": { "hgvs": "ENSP00000498973.1:p.Tyr636Ter", "hgvsWellDefined": "ENSP00000498973.1:p.Tyr636Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS772236" }, { "coordinates": [ { "allele": "A", "end": 2262, "referenceAllele": "C", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000378823.7:c.1875C>A" ], "proteinEffect": { "hgvs": "ENSP00000368100.4:p.Tyr625Ter", "hgvsWellDefined": "ENSP00000368100.4:p.Tyr625_His1312delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272217" }, { "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000423956.5:c.*61C>A" ], "proteinEffect": { "hgvs": "ENSP00000390971.1:n.*61C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS288019" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000453394.5:c.1692C>A" ], "proteinEffect": { "hgvs": "ENSP00000400049.1:p.Tyr564Ter", "hgvsWellDefined": "ENSP00000400049.1:p.Tyr564Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302091" }, { "coordinates": [ { "allele": "A", "end": 2197, "referenceAllele": "C", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000533482.5:c.*1501C>A" ], "proteinEffect": { "hgvs": "ENSP00000431225.1:n.*1501C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS358249" }, { "@id": "http://reg.genome.network/allele/PA355680", "coordinates": [ { "allele": "A", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "NM_005732.3:c.1875C>A" ], "proteinEffect": { "hgvs": "NP_005723.2:p.Tyr625Ter", "hgvsWellDefined": "NP_005723.2:p.Tyr625_His1312delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030809" }, { "@id": "http://reg.genome.network/allele/PA355680", "coordinates": [ { "allele": "A", "end": 2223, "referenceAllele": "C", "start": 2222 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "NM_005732.4:c.1875C>A" ], "proteinEffect": { "hgvs": "NP_005723.2:p.Tyr625Ter", "hgvsWellDefined": "NP_005723.2:p.Tyr625_His1312delinsGluAspLysLeuPheAspValCysGlySerGlnAspPheGluSerAspLeuAspArgLeuLysGluGluIleGluLysSerSerLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696507", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378823.8:c.1875C>A" }, "RefSeq": { "hgvs": "NM_005732.4:c.1875C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368100.4:p.Tyr625Ter" }, "RefSeq": { "hgvs": "NP_005723.2:p.Tyr625Ter" } } } } ], "type": "nucleotide" }