{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7910452", "communityStandardTitle": [ "NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3087214[alleleid]", "alleleId": 3087214, "preferredName": "NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2928951", "RCV": [ "RCV003781677" ], "variationId": 2928951 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-14029165-C-A", "id": "16-14029165-C-A", "variant": "16:14029165 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14029165C>A?assembly=hg19", "id": "chr16:g.14029165C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.13935308C>A?assembly=hg38", "id": "chr16:g.13935308C>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827606" }, { "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682826.1:c.*690C>A" ], "proteinEffect": { "hgvs": "ENSP00000507274.1:n.*690C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827814" }, { "coordinates": [ { "allele": "A", "end": 3416, "referenceAllele": "C", "start": 3415 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000682909.1:n.3416C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827897" }, { "coordinates": [ { "allele": "A", "end": 3021, "referenceAllele": "C", "start": 3020 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000683277.1:n.3021C>A" ], "referenceSequence": 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"hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745755", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.1376C>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.1376C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Ser459Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Ser459Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000311895.7:c.1376C>A" ], "proteinEffect": { "hgvs": "ENSP00000310520.7:p.Ser459Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS256598" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000389138.7:n.653C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS274156" }, { "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "ENST00000573018.1:n.444C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383144" }, { "@id": "http://reg.genome.network/allele/PA2741919495", "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.2:c.1376C>A", "LRG_463t1:c.1376C>A" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS030348" }, { "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.1:c.1514C>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Ser505Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089576" }, { "coordinates": [ { "allele": "A", "end": 2068, "referenceAllele": "C", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522425.1:c.833C>A" ], "proteinEffect": { "hgvs": "XP_011520727.1:p.Ser278Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089577" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522426.1:c.587C>A" ], "proteinEffect": { "hgvs": "XP_011520728.1:p.Ser196Ter", "hgvsWellDefined": "XP_011520728.1:p.Ser196_Lys653delinsLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089578" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522427.1:c.26C>A" ], "proteinEffect": { "hgvs": "XP_011520729.1:p.Ser9Ter", "hgvsWellDefined": "XP_011520729.1:p.Ser9_Lys466delinsLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089579" }, { "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XR_932805.1:n.1535C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128721" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "C", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.3:c.1514C>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Ser505Ter", "hgvsWellDefined": "XP_011520726.1:p.Ser505_Lys962delinsLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546577" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_017023043.2:c.587C>A" ], "proteinEffect": { "hgvs": "XP_016878532.1:p.Ser196Ter", "hgvsWellDefined": "XP_016878532.1:p.Ser196_Lys653delinsLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573869" }, { "@id": "http://reg.genome.network/allele/PA2741919495", "coordinates": [ { "allele": "A", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.3:c.1376C>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Ser459Ter", "hgvsWellDefined": "NP_005227.1:p.Ser459_Lys916delinsLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696357", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.1376C>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.1376C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Ser459Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Ser459Ter" } } } } ], "type": "nucleotide" }