{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA333219", "communityStandardTitle": [ "NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151360[alleleid]", "alleleId": 151360, "preferredName": "NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141646", "RCV": [ "RCV000130243", "RCV001535645", "RCV003965074" ], "variationId": 141646 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-131930725-C-A", "id": "5-131930725-C-A", "variant": "5:131930725 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131930725C>A?assembly=hg19", "id": "chr5:g.131930725C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132595033C>A?assembly=hg38", "id": "chr5:g.132595033C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587781904", "rs": 587781904 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-131930725-C-A?dataset=gnomad_r2_1", "id": "5-131930725-C-A", "variant": "5:131930725 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-132595033-C-A?dataset=gnomad_r3", "id": "5-132595033-C-A", "variant": "5:132595033 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-132595033-C-A?dataset=gnomad_r4", "id": "5-132595033-C-A", "variant": "5:132595033 C / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 132595033, "referenceAllele": "C", "start": 132595032 } ], "hgvs": [ "NC_000005.10:g.132595033C>A", "CM000667.2:g.132595033C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131930725, "referenceAllele": "C", "start": 131930724 } ], "hgvs": [ "NC_000005.9:g.131930725C>A", "CM000667.1:g.131930725C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131958624, "referenceAllele": "C", "start": 131958623 } ], "hgvs": [ "NC_000005.8:g.131958624C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 43110, "referenceAllele": "C", "start": 43109 } ], "hgvs": [ "NG_021151.1:g.43110C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003445" }, { "coordinates": [ { "allele": "A", "end": 43057, "referenceAllele": "C", "start": 43056 } ], "hgvs": [ "NG_021151.2:g.43057C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706126" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000378823.8:c.1958C>A" ], "proteinEffect": { "hgvs": "ENSP00000368100.4:p.Ser653Ter", "hgvsWellDefined": "ENSP00000368100.4:p.Ser653_His1312delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752139", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378823.8:c.1958C>A" }, "RefSeq": { "hgvs": "NM_005732.4:c.1958C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368100.4:p.Ser653Ter" }, "RefSeq": { "hgvs": "NP_005723.2:p.Ser653Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2197, "referenceAllele": "C", "start": 2196 } ], "hgvs": [ "ENST00000638452.2:c.1661C>A" ], "proteinEffect": { "hgvs": "ENSP00000492349.2:p.Ser554Ter", "hgvsWellDefined": "ENSP00000492349.2:p.Ser554_His1213delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764537" }, { "coordinates": [ { "allele": "A", "end": 1479, "endIntronDirection": "-", "endIntronOffset": 70, "referenceAllele": "C", "start": 1479, "startIntronDirection": "-", "startIntronOffset": 71 } ], "hgvs": [ "ENST00000638504.1:n.1480-71C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764565" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "hgvs": [ "ENST00000638568.2:c.1661C>A" ], "proteinEffect": { "hgvs": "ENSP00000491158.2:p.Ser554Ter", "hgvsWellDefined": "ENSP00000491158.2:p.Ser554_His1213delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764591" }, { "coordinates": [ { "allele": "A", "end": 2477, "referenceAllele": "C", "start": 2476 } ], "hgvs": [ "ENST00000639899.1:n.2477C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765234" }, { "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "hgvs": [ "ENST00000640655.2:c.1661C>A" ], "proteinEffect": { "hgvs": "ENSP00000491596.2:p.Ser554Ter", "hgvsWellDefined": "ENSP00000491596.2:p.Ser554_His1213delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765604" }, { "coordinates": [ { "allele": "A", "end": 2339, "endIntronDirection": "-", "endIntronOffset": 70, "referenceAllele": "C", "start": 2339, "startIntronDirection": "-", "startIntronOffset": 71 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651160.1:c.*16-71C>A" ], "proteinEffect": { "hgvs": "ENSP00000498829.1:n.*16-71C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771500" }, { "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "C", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651658.1:n.2501C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771793" }, { "coordinates": [ { "allele": "A", "end": 2368, "referenceAllele": "C", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000651723.1:c.*2041C>A" ], "proteinEffect": { "hgvs": "ENSP00000498237.1:n.*2041C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771824" }, { "coordinates": [ { "allele": "A", "end": 2255, "endIntronDirection": "-", "endIntronOffset": 70, "referenceAllele": "C", "start": 2255, "startIntronDirection": "-", "startIntronOffset": 71 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000652016.1:c.*89-71C>A" ], "proteinEffect": { "hgvs": "ENSP00000498267.1:n.*89-71C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771980" }, { "coordinates": [ { "allele": "A", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000652485.1:c.1991C>A" ], "proteinEffect": { "hgvs": "ENSP00000498973.1:p.Ser664Ter", "hgvsWellDefined": "ENSP00000498973.1:p.Ser664Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS772236" }, { "coordinates": [ { "allele": "A", "end": 2345, "referenceAllele": "C", "start": 2344 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000378823.7:c.1958C>A" ], "proteinEffect": { "hgvs": "ENSP00000368100.4:p.Ser653Ter", "hgvsWellDefined": "ENSP00000368100.4:p.Ser653_His1312delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272217" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000423956.5:c.*144C>A" ], "proteinEffect": { "hgvs": "ENSP00000390971.1:n.*144C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS288019" }, { "coordinates": [ { "allele": "A", "end": 1869, "referenceAllele": "C", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000453394.5:c.1775C>A" ], "proteinEffect": { "hgvs": "ENSP00000400049.1:p.Ser592Ter", "hgvsWellDefined": "ENSP00000400049.1:p.Ser592Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302091" }, { "coordinates": [ { "allele": "A", "end": 2280, "referenceAllele": "C", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000533482.5:c.*1584C>A" ], "proteinEffect": { "hgvs": "ENSP00000431225.1:n.*1584C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS358249" }, { "@id": "http://reg.genome.network/allele/PA333220", "coordinates": [ { "allele": "A", "end": 2359, "referenceAllele": "C", "start": 2358 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "NM_005732.3:c.1958C>A" ], "proteinEffect": { "hgvs": "NP_005723.2:p.Ser653Ter", "hgvsWellDefined": "NP_005723.2:p.Ser653_His1312delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030809" }, { "@id": "http://reg.genome.network/allele/PA333220", "coordinates": [ { "allele": "A", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "NM_005732.4:c.1958C>A" ], "proteinEffect": { "hgvs": "NP_005723.2:p.Ser653Ter", "hgvsWellDefined": "NP_005723.2:p.Ser653_His1312delinsLysGlnArgAlaMetLeuAlaGlyAlaThrAlaValTyrSerGlnPheIleThrGlnLeuThrAspGluAsnGlnSerCysCysProValCysGlnArgValPheGlnThrGluAlaGluLeuGlnGluValIleSerAspLeuGlnSerLysLeuArgLeuAlaProAspLysLeuLysSerThrGluSerGluLeuLysLysLysGluLysArgArgAspGluMetLeuGlyLeuValProMetArgGlnSerIleIleAspLeuLysGluLysGluIleProGluLeuArgAsnLysLeuGlnAsnValAsnArgAspIleGlnArgLeuLysAsnAspIleGluGluGlnGluThrLeuLeuGlyThrIleMetProGluGluGluSerAlaLysValCysLeuThrAspValThrIleMetGluArgPheGlnMetGluLeuLysAspValGluArgLysIleAlaGlnGlnAlaAlaLysLeuGlnGlyIleAspLeuAspArgThrValGlnGlnValAsnGlnGluLysGlnGluLysGlnHisLysLeuAspThrValSerSerLysIleGluLeuAsnArgLysLeuIleGlnAspGlnGlnGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696507", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378823.8:c.1958C>A" }, "RefSeq": { "hgvs": "NM_005732.4:c.1958C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368100.4:p.Ser653Ter" }, "RefSeq": { "hgvs": "NP_005723.2:p.Ser653Ter" } } } } ], "type": "nucleotide" }