{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348389868", "communityStandardTitle": [ "NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1309808[alleleid]", "alleleId": 1309808, "preferredName": "NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1319556", "RCV": [ "RCV001780443", "RCV002478003" ], "variationId": 1319556 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128044459G>A?assembly=hg19", "id": "chr2:g.128044459G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127286883G>A?assembly=hg38", "id": "chr2:g.127286883G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1055129064", "rs": 1055129064 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-128044459-G-A?dataset=gnomad_r2_1", "id": "2-128044459-G-A", "variant": "2:128044459 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-127286883-G-A?dataset=gnomad_r4", "id": "2-127286883-G-A", "variant": "2:127286883 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 127286883, "referenceAllele": "G", "start": 127286882 } ], "hgvs": [ "NC_000002.12:g.127286883G>A", "CM000664.2:g.127286883G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 128044459, "referenceAllele": "G", "start": 128044458 } ], "hgvs": [ "NC_000002.11:g.128044459G>A", "CM000664.1:g.128044459G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 127760929, "referenceAllele": "G", "start": 127760928 } ], "hgvs": [ "NC_000002.10:g.127760929G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 12294, "referenceAllele": "C", "start": 12293 } ], "hgvs": [ "NG_007454.1:g.12294C>T", "LRG_462:g.12294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000580" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000285398.7:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000285398.2:p.Gln388Ter", "hgvsWellDefined": "ENSP00000285398.2:p.Gln388_Lys782delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.1162C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Gln388Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Gln388Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000644317.1:c.*651C>T" ], "proteinEffect": { "hgvs": "ENSP00000494012.1:n.*651C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767757" }, { "coordinates": [ { "allele": "T", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645233.1:c.*1374C>T" ], "proteinEffect": { "hgvs": "ENSP00000494116.1:n.*1374C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768234" }, { "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645467.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000494889.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000494889.1:p.Gln388_Val448delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768368" }, { "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645736.1:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000494545.1:p.Gln340Ter", "hgvsWellDefined": "ENSP00000494545.1:p.Gln340_Ser406delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProGlyLeuValProTyrValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768521" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000646042.1:n.1897C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768665" }, { "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000646654.1:c.*629C>T" ], "proteinEffect": { "hgvs": "ENSP00000494526.1:n.*629C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768994" }, { "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000647169.1:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000495619.1:p.Gln388Ter", "hgvsWellDefined": "ENSP00000495619.1:p.Gln388_Lys807delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProGlyLeuLysValMetValLysHisLeuProSerHisSerCysLeuGluProAlaSerValValLeuLysProLysAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769274" }, { "coordinates": [ { "allele": "T", "end": 395, "endIntronDirection": "+", "endIntronOffset": 2454, "referenceAllele": "C", "start": 395, "startIntronDirection": "+", "startIntronOffset": 2453 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000647496.1:c.395+2454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769448" }, { "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "C", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000285398.6:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000285398.2:p.Gln388Ter", "hgvsWellDefined": "ENSP00000285398.2:p.Gln388_Lys782delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253301" }, { "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000426778.5:c.*1143C>T" ], "proteinEffect": { "hgvs": "ENSP00000415335.1:n.*1143C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS289379" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000445889.5:c.*1205C>T" ], "proteinEffect": { "hgvs": "ENSP00000390888.1:n.*1205C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298489" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000494464.5:n.1233C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331386" }, { "@id": "http://reg.genome.network/allele/PA2573061319", "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "C", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.1:c.1162C>T", "LRG_462t1:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Gln388Ter", "hgvsWellDefined": "NP_000113.1:p.Gln388_Lys782delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882440", "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Gln324Ter", "hgvsWellDefined": "NP_001290345.1:p.Gln324_Lys718delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA2826882764", "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Gln324Ter", "hgvsWellDefined": "NP_001290347.1:p.Gln324_Lys718delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.1180C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Gln394Ter", "hgvsWellDefined": "XP_011509096.1:p.Gln394_Lys788delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.724C>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:p.Gln242Ter", "hgvsWellDefined": "XP_011509097.1:p.Gln242_Lys636delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.1180C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Gln394Ter", "hgvsWellDefined": "XP_011509096.1:p.Gln394_Lys788delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.706C>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:p.Gln236Ter", "hgvsWellDefined": "XP_016859072.1:p.Gln236_Lys630delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA2573061319", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Gln388Ter", "hgvsWellDefined": "NP_000113.1:p.Gln388_Lys782delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.1162C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.1162C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Gln388Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Gln388Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882440", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Gln324Ter", "hgvsWellDefined": "NP_001290345.1:p.Gln324_Lys718delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA2826882764", "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.970C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Gln324Ter", "hgvsWellDefined": "NP_001290347.1:p.Gln324_Lys718delinsIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }