{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA343960425", "communityStandardTitle": [ "NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2898392[alleleid]", "alleleId": 2898392, "preferredName": "NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734059", "RCV": [ "RCV003501682" ], "variationId": 2734059 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193104556G>T?assembly=hg19", "id": "chr1:g.193104556G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193135426G>T?assembly=hg38", "id": "chr1:g.193135426G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2527311881", "rs": 2527311881 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 193135426, "referenceAllele": "G", "start": 193135425 } ], "hgvs": [ "NC_000001.11:g.193135426G>T", "CM000663.2:g.193135426G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 193104556, "referenceAllele": "G", "start": 193104555 } ], "hgvs": [ "NC_000001.10:g.193104556G>T", "CM000663.1:g.193104556G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 191371179, "referenceAllele": "G", "start": 191371178 } ], "hgvs": [ "NC_000001.9:g.191371179G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 18469, "referenceAllele": "G", "start": 18468 } ], "hgvs": [ "NG_012691.1:g.18469G>T", "LRG_507:g.18469G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Glu115Ter", "hgvsWellDefined": "ENSP00000356405.4:p.Glu115_Phe531delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750012", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.343G>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.343G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Glu115Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Glu115Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000635846.1:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000490035.1:p.Glu115Ter", "hgvsWellDefined": "ENSP00000490035.1:p.Glu115_Phe450delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762679" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643006.1:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000496633.1:p.Glu115Ter", "hgvsWellDefined": "ENSP00000496633.1:p.Glu115_Ser385delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuArgValHisLeuProGlyArgLeuArgLeuLeuGlnProSerGlnTyrGlnAspGlnPheLeuLysGlnAspLeuProGlnIleArgArgLysAspLeuGluHisProLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767038" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "G", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643784.1:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000494944.1:p.Glu115Ter", "hgvsWellDefined": "ENSP00000494944.1:p.Glu115_Val197delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgPheCysValAsnIlePheGlnAspPheHisLeuValThrLysValIlePheLeuSerThrValIleLysValPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767470" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000647662.1:n.244G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769542" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000648071.1:c.*319G>T" ], "proteinEffect": { "hgvs": "ENSP00000497513.1:n.*319G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769774" }, { "coordinates": [ { "allele": "T", "end": 356, "referenceAllele": "G", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649606.1:n.356G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770629" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649706.1:n.284G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770694" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000649895.1:n.561G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770821" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000650197.1:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000496929.1:p.Glu115Ter", "hgvsWellDefined": "ENSP00000496929.1:p.Glu115_Leu482delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysAsnAlaGlyMetSerGlyLeuArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770987" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.3:c.343G>T" ], "proteinEffect": { "hgvs": "ENSP00000356405.3:p.Glu115Ter", "hgvsWellDefined": "ENSP00000356405.3:p.Glu115_Phe531delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266385" }, { "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000482484.1:n.595G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322165" }, { "@id": "http://reg.genome.network/allele/PA2741987601", "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.4:c.343G>T", "LRG_507t1:c.343G>T" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Glu115Ter", "hgvsWellDefined": "NP_078805.3:p.Glu115_Phe531delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.343G>T" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Glu115Ter", "hgvsWellDefined": "XP_006711600.1:p.Glu115_Leu347delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069173" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.4:c.343G>T" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Glu115Ter", "hgvsWellDefined": "XP_006711600.1:p.Glu115_Leu347delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538021" }, { "@id": "http://reg.genome.network/allele/PA2741987601", "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.5:c.343G>T" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Glu115Ter", "hgvsWellDefined": "NP_078805.3:p.Glu115_Phe531delinsIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.343G>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.343G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Glu115Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Glu115Ter" } } } } ], "type": "nucleotide" }