{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348391475", "communityStandardTitle": [ "NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790042[alleleid]", "alleleId": 790042, "preferredName": "NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801749", "RCV": [ "RCV000986811", "RCV001858655" ], "variationId": 801749 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128050197G>A?assembly=hg19", "id": "chr2:g.128050197G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127292621G>A?assembly=hg38", "id": "chr2:g.127292621G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1404293670", "rs": 1404293670 } ], "gnomAD_2": [ { "@id": 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"ENSP00000494889.1:p.Gln154_Val448delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768368" }, { 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"ENST00000462306.5:n.374C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306597" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000490062.1:n.390C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327980" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000494464.5:n.344C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331386" }, { "@id": "http://reg.genome.network/allele/PA2825045328", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.1:c.460C>T", "LRG_462t1:c.460C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Gln154Ter", "hgvsWellDefined": "NP_000113.1:p.Gln154_Lys782delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882330", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Gln90Ter", "hgvsWellDefined": "NP_001290345.1:p.Gln90_Lys718delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA916019547", "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Gln90Ter", "hgvsWellDefined": "NP_001290347.1:p.Gln90_Lys718delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.460C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Gln154Ter", "hgvsWellDefined": "XP_011509096.1:p.Gln154_Lys788delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:p.Gln2Ter", "hgvsWellDefined": "XP_011509097.1:p.Gln2_Lys636delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.460C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Gln154Ter", "hgvsWellDefined": "XP_011509096.1:p.Gln154_Lys788delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:p.Gln2Ter", "hgvsWellDefined": "XP_016859072.1:p.Gln2_Lys630delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA2825045328", "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.460C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Gln154Ter", "hgvsWellDefined": "NP_000113.1:p.Gln154_Lys782delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.460C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.460C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Gln154Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Gln154Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882330", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Gln90Ter", "hgvsWellDefined": "NP_001290345.1:p.Gln90_Lys718delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA916019547", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Gln90Ter", "hgvsWellDefined": "NP_001290347.1:p.Gln90_Lys718delinsPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }