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}, "referenceSequence": "http://reg.genome.network/refseq/RS272217" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000423956.5:c.*755C>T" ], "proteinEffect": { "hgvs": "ENSP00000390971.1:n.*755C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288019" }, { "coordinates": [ { "allele": "T", "end": 2891, "referenceAllele": "C", "start": 2890 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "ENST00000533482.5:c.*2195C>T" ], "proteinEffect": { "hgvs": "ENSP00000431225.1:n.*2195C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS358249" }, { "@id": "http://reg.genome.network/allele/PA645457319", "coordinates": [ { "allele": "T", "end": 2970, "referenceAllele": "C", "start": 2969 } ], "gene": "http://reg.genome.network/gene/GN009816", 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"NP_005723.2:p.Gln857_His1312delinsGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030809" }, { "@id": "http://reg.genome.network/allele/PA645457319", "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN009816", "geneNCBI_id": 10111, "geneSymbol": "RAD50", "hgvs": [ "NM_005732.4:c.2569C>T" ], "proteinEffect": { "hgvs": "NP_005723.2:p.Gln857Ter", "hgvsWellDefined": "NP_005723.2:p.Gln857_His1312delinsGluGlnIleGlnHisLeuLysSerThrThrAsnGluLeuLysSerGluLysLeuGlnIleSerThrAsnLeuGlnArgArgGlnGlnLeuGluGluGlnThrValGluLeuSerThrGluValGlnSerLeuTyrArgGluIleLysAspAlaLysGluGlnValSerProLeuGluThrThrLeuGluLysPheGlnGlnGluLysGluGluLeuIleAsnLysLysAsnThrSerAsnLysIleAlaGlnAspLysLeuAsnAspIleLysGluLysValLysAsnIleHisGlyTyrMetLysAspIleGluAsnTyrIleGlnAspGlyLysAspAspTyrLysLysGlnLysGluThrGluLeuAsnLysValIleAlaGlnLeuSerGluCysGluLysHisLysGluLysIleAsnGluAspMetArgLeuMetArgGlnAspIleAspThrGlnLysIleGlnGluArgTrpLeuGlnAspAsnLeuThrLeuArgLysArgAsnGluGluLeuLysGluValGluGluGluArgLysGlnHisLeuLysGluMetGlyGlnMetGlnValLeuGlnMetLysSerGluHisGlnLysLeuGluGluAsnIleAspAsnIleLysArgAsnHisAsnLeuAlaLeuGlyArgGlnLysGlyTyrGluGluGluIleIleHisPheLysLysGluLeuArgGluProGlnPheArgAspAlaGluGluLysTyrArgGluMetMetIleValMetArgThrThrGluLeuValAsnLysAspLeuAspIleTyrTyrLysThrLeuAspGlnAlaIleMetLysPheHisSerMetLysMetGluGluIleAsnLysIleIleArgAspLeuTrpArgSerThrTyrArgGlyGlnAspIleGluTyrIleGluIleArgSerAspAlaAspGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThrAlaLeuAspMetArgGlyArgCysSerAlaGlyGlnLysValLeuAlaSerLeuIleIleArgLeuAlaLeuAlaGluThrPheCysLeuAsnCysGlyIleIleAlaLeuAspGluProThrThrAsnLeuAspArgGluAsnIleGluSerLeuAlaHisAlaLeuValGluIleIleLysSerArgSerGlnGlnArgAsnPheGlnLeuLeuValIleThrHisAspGluAspPheValGluLeuLeuGlyArgSerGluTyrValGluLysPheTyrArgIleLysLysAsnIleAspGlnCysSerGluIleValLysCysSerValSerSerLeuGlyPheAsnValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696507", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378823.8:c.2569C>T" }, "RefSeq": { "hgvs": "NM_005732.4:c.2569C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368100.4:p.Gln857Ter" }, "RefSeq": { "hgvs": "NP_005723.2:p.Gln857Ter" } } } } ], "type": "nucleotide" }