{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348389568", "communityStandardTitle": [ "NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862755[alleleid]", "alleleId": 1862755, "preferredName": "NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805744", "RCV": [ "RCV002472162", "RCV003317611", "RCV003730245" ], "variationId": 1805744 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128044321C>A?assembly=hg19", "id": "chr2:g.128044321C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127286745C>A?assembly=hg38", "id": "chr2:g.127286745C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1434876636", "rs": 1434876636 } ], "gnomAD_3": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769274" }, { "coordinates": [ { "allele": "T", "end": 395, "endIntronDirection": "+", "endIntronOffset": 2592, "referenceAllele": "G", "start": 395, "startIntronDirection": "+", "startIntronOffset": 2591 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000647496.1:c.395+2592G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769448" }, { "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000285398.6:c.1300G>T" ], "proteinEffect": { "hgvs": "ENSP00000285398.2:p.Glu434Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253301" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000426778.5:c.*1281G>T" ], "proteinEffect": { "hgvs": "ENSP00000415335.1:n.*1281G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS289379" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000445889.5:c.*1343G>T" ], "proteinEffect": { "hgvs": "ENSP00000390888.1:n.*1343G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298489" }, { "@id": "http://reg.genome.network/allele/PA2580104630", "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN003435", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882464", "coordinates": [ { "allele": "T", "end": 1510, "referenceAllele": "G", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.1108G>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Glu370Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA2826882789", "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.1108G>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Glu370Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "G", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Glu440Ter", "hgvsWellDefined": "XP_011509096.1:p.Glu440_Lys788delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.862G>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:p.Glu288Ter", "hgvsWellDefined": "XP_011509097.1:p.Glu288_Lys636delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.1318G>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Glu440Ter", "hgvsWellDefined": "XP_011509096.1:p.Glu440_Lys788delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.844G>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:p.Glu282Ter", "hgvsWellDefined": "XP_016859072.1:p.Glu282_Lys630delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA2580104630", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.1300G>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Glu434Ter", "hgvsWellDefined": "NP_000113.1:p.Glu434_Lys782delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.1300G>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.1300G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Glu434Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Glu434Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882464", "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.1108G>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Glu370Ter", "hgvsWellDefined": "NP_001290345.1:p.Glu370_Lys718delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA2826882789", "coordinates": [ { "allele": "T", "end": 1622, "referenceAllele": "G", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.1108G>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Glu370Ter", "hgvsWellDefined": "NP_001290347.1:p.Glu370_Lys718delinsTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }