{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394816007", "communityStandardTitle": [ "NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1431954[alleleid]", "alleleId": 1431954, "preferredName": "NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452810", "RCV": [ "RCV002037756" ], "variationId": 1452810 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14014080C>T?assembly=hg19", "id": "chr16:g.14014080C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.13920223C>T?assembly=hg38", "id": "chr16:g.13920223C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1355878901", "rs": 1355878901 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-13920223-C-T?dataset=gnomad_r4", "id": "16-13920223-C-T", "variant": "16:13920223 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 13920223, "referenceAllele": "C", "start": 13920222 } ], "hgvs": [ "NC_000016.10:g.13920223C>T", "CM000678.2:g.13920223C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 14014080, "referenceAllele": "C", "start": 14014079 } ], "hgvs": [ "NC_000016.9:g.14014080C>T", "CM000678.1:g.14014080C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 13921581, "referenceAllele": "C", "start": 13921580 } ], "hgvs": [ "NC_000016.8:g.13921581C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "C", "start": 5066 } ], "hgvs": [ "NG_011442.1:g.5067C>T", "LRG_463:g.5067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001720" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682552.1:n.46C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827542" }, { "coordinates": [ { "allele": "T", "end": 86, "referenceAllele": "C", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682617.1:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000507912.1:p.Arg20Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827606" }, { "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682826.1:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000507274.1:p.Arg20Ter", "hgvsWellDefined": "ENSP00000507274.1:p.Arg20_Thr277delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysValGluGluPheTyrIleArgMetLeuHisAsnCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827814" }, { "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682909.1:n.67C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827897" }, { "coordinates": [ { "allele": "T", "end": 45, "referenceAllele": "C", "start": 44 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683277.1:n.45C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828258" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683407.1:n.66C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828384" }, { "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683962.1:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000506854.1:p.Arg20Ter", "hgvsWellDefined": "ENSP00000506854.1:p.Arg20_Arg137delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyArgValLeuLysIleAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828925" }, { "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000311895.8:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000310520.7:p.Arg20Ter", "hgvsWellDefined": "ENSP00000310520.7:p.Arg20_Lys916delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745755", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.58C>T" }, "RefSeq": { "hgvs": "NM_005236.3:c.58C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Arg20Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Arg20Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000311895.7:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000310520.7:p.Arg20Ter", "hgvsWellDefined": "ENSP00000310520.7:p.Arg20_Lys916delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256598" }, { "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000575156.5:c.58C>T" ], "proteinEffect": { "hgvs": "ENSP00000459933.1:p.Arg20Ter", "hgvsWellDefined": "ENSP00000459933.1:p.Arg20_Gly372delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGlyIleLeuTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383997" }, { "coordinates": [ { "allele": "T", "end": 33, "referenceAllele": "C", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000576348.1:n.33C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS384443" }, { "@id": "http://reg.genome.network/allele/PA2573248724", "coordinates": [ { "allele": "T", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.2:c.58C>T", "LRG_463t1:c.58C>T" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Arg20Ter", "hgvsWellDefined": "NP_005227.1:p.Arg20_Lys916delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030348" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.1:c.58C>T" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Arg20Ter", "hgvsWellDefined": "XP_011520726.1:p.Arg20_Lys962delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089576" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XR_932805.1:n.79C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128721" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 6302, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 6301 } ], "hgvs": [ "XR_933098.1:n.82+6302G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128880" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 6302, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 6301 } ], "hgvs": [ "XR_933099.1:n.82+6302G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128881" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 6302, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 6301 } ], "hgvs": [ "XR_933100.1:n.82+6302G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128882" }, { "coordinates": [ { "allele": "T", "end": 87, "referenceAllele": "C", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.3:c.58C>T" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Arg20Ter", "hgvsWellDefined": "XP_011520726.1:p.Arg20_Lys962delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546577" }, { "coordinates": [ { "allele": "T", "end": 41, "referenceAllele": "C", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_017023043.2:c.-880C>T" ], "proteinEffect": { "hgvs": "XP_016878532.1:n.-880C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573869" }, { "@id": "http://reg.genome.network/allele/PA2573248724", "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.3:c.58C>T" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Arg20Ter", "hgvsWellDefined": "NP_005227.1:p.Arg20_Lys916delinsGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696357", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.58C>T" }, "RefSeq": { "hgvs": "NM_005236.3:c.58C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Arg20Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Arg20Ter" } } } } ], "type": "nucleotide" }