{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252648", "communityStandardTitle": [ "NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=26046", "active": true, "id": "COSM26046" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18310[alleleid]", "alleleId": 18310, "preferredName": "NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3271", "RCV": [ "RCV000003430" ], "variationId": 3271 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193091458G>A?assembly=hg19", "id": "chr1:g.193091458G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193122328G>A?assembly=hg38", "id": "chr1:g.193122328G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434263", "rs": 121434263 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 193122328, "referenceAllele": "G", "start": 193122327 } ], "hgvs": [ "NC_000001.11:g.193122328G>A", "CM000663.2:g.193122328G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 193091458, "referenceAllele": "G", "start": 193091457 } ], "hgvs": [ "NC_000001.10:g.193091458G>A", "CM000663.1:g.193091458G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 191358081, "referenceAllele": "G", "start": 191358080 } ], "hgvs": [ "NC_000001.9:g.191358081G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 5371, "referenceAllele": "G", "start": 5370 } ], "hgvs": [ "NG_012691.1:g.5371G>A", "LRG_507:g.5371G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Trp43Ter", "hgvsWellDefined": "ENSP00000356405.4:p.Trp43_Phe531delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750012", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.128G>A" }, "RefSeq": { "hgvs": "NM_024529.5:c.128G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Trp43Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Trp43Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 149, "referenceAllele": "G", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000635846.1:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000490035.1:p.Trp43Ter", "hgvsWellDefined": "ENSP00000490035.1:p.Trp43_Phe450delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762679" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643006.1:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000496633.1:p.Trp43Ter", "hgvsWellDefined": "ENSP00000496633.1:p.Trp43_Ser385delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuArgValHisLeuProGlyArgLeuArgLeuLeuGlnProSerGlnTyrGlnAspGlnPheLeuLysGlnAspLeuProGlnIleArgArgLysAspLeuGluHisProLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767038" }, { "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "G", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643784.1:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000494944.1:p.Trp43Ter", "hgvsWellDefined": "ENSP00000494944.1:p.Trp43_Val197delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgPheCysValAsnIlePheGlnAspPheHisLeuValThrLysValIlePheLeuSerThrValIleLysValPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767470" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "G", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000647662.1:n.29G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769542" }, { "coordinates": [ { "allele": "A", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000648071.1:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000497513.1:p.Trp43Ter", "hgvsWellDefined": "ENSP00000497513.1:p.Trp43_Ser104delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaTrpArgAspLeuGlySerLeuGlnProProProProGlyPheLysGlyPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769774" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649606.1:n.141G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770629" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649895.1:n.346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770821" }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000650197.1:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000496929.1:p.Trp43Ter", "hgvsWellDefined": "ENSP00000496929.1:p.Trp43_Leu482delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysAsnAlaGlyMetSerGlyLeuArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770987" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.3:c.128G>A" ], "proteinEffect": { "hgvs": "ENSP00000356405.3:p.Trp43Ter", "hgvsWellDefined": "ENSP00000356405.3:p.Trp43_Phe531delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266385" }, { "@id": "http://reg.genome.network/allele/PA252650", "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.4:c.128G>A", "LRG_507t1:c.128G>A" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Trp43Ter", "hgvsWellDefined": "NP_078805.3:p.Trp43_Phe531delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.128G>A" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Trp43Ter", "hgvsWellDefined": "XP_006711600.1:p.Trp43_Leu347delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069173" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.4:c.128G>A" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Trp43Ter", "hgvsWellDefined": "XP_006711600.1:p.Trp43_Leu347delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538021" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "hgvs": [ "XR_001738350.1:n.1329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS588895" }, { "@id": "http://reg.genome.network/allele/PA252650", "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.5:c.128G>A" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Trp43Ter", "hgvsWellDefined": "NP_078805.3:p.Trp43_Phe531delinsGlyThrGlyLysGluGlyGlnProArgGluTyrTyrThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.128G>A" }, "RefSeq": { "hgvs": "NM_024529.5:c.128G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Trp43Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Trp43Ter" } } } } ], "type": "nucleotide" }