{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA126677", "communityStandardTitle": [ "NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31609[alleleid]", "alleleId": 31609, "preferredName": "NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16570", "RCV": [ "RCV000018038" ], "variationId": 16570 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/13-103513971-C-T", "id": "13-103513971-C-T", "variant": "13:103513971 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.103513971C>T?assembly=hg19", "id": "chr13:g.103513971C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.102861621C>T?assembly=hg38", "id": "chr13:g.102861621C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434572", "rs": 121434572 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-103513971-C-T?dataset=gnomad_r2_1", "id": "13-103513971-C-T", "variant": "13:103513971 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-102861621-C-T?dataset=gnomad_r3", "id": "13-102861621-C-T", "variant": "13:102861621 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-102861621-C-T?dataset=gnomad_r4", "id": "13-102861621-C-T", "variant": "13:102861621 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 102861621, "referenceAllele": "C", "start": 102861620 } ], "hgvs": [ "NC_000013.11:g.102861621C>T", "CM000675.2:g.102861621C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 103513971, "referenceAllele": "C", "start": 103513970 } ], "hgvs": [ "NC_000013.10:g.103513971C>T", "CM000675.1:g.103513971C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 102311972, "referenceAllele": "C", "start": 102311971 } ], "hgvs": [ "NC_000013.9:g.102311972C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 20798, "referenceAllele": "C", "start": 20797 } ], "hgvs": [ "NG_007146.1:g.20798C>T", "LRG_464:g.20798C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000499" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000682632.1:n.1028C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827621" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000682869.1:n.1436C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827857" }, { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000683246.1:n.1564C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828228" }, { "coordinates": [ { "allele": "T", "end": 2333, "referenceAllele": "C", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "ENST00000639132.1:c.1462C>T" ], "proteinEffect": { "hgvs": "ENSP00000492684.1:p.Arg488Ter", "hgvsWellDefined": "ENSP00000492684.1:p.Arg489_Thr1411delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764881" }, { "coordinates": [ { "allele": "T", "end": 2767, "referenceAllele": "C", "start": 2766 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "ENST00000639435.1:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000491742.1:p.Arg717Ter", "hgvsWellDefined": "ENSP00000491742.1:p.Arg718_Thr1640delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765025" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000651002.1:c.*548C>T" ], "proteinEffect": { "hgvs": "ENSP00000498809.1:n.*548C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771415" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000651055.1:n.916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771443" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000651281.1:n.1155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771574" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000651387.1:n.271C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771641" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000651470.1:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000498701.1:p.Arg263Ter", "hgvsWellDefined": "ENSP00000498701.1:p.Arg264_Gly904delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerCysCysArgGlyLeuProGlnThrArgGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771686" }, { "coordinates": [ { "allele": "T", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000652225.2:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000498881.2:p.Arg263Ter", "hgvsWellDefined": "ENSP00000498881.2:p.Arg264_Thr1186delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772086", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652225.2:c.787C>T" }, "RefSeq": { "hgvs": "NM_000123.4:c.787C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498881.2:p.Arg263Ter" }, "RefSeq": { "hgvs": "NP_000114.3:p.Arg263Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000652613.1:c.283C>T" ], "proteinEffect": { "hgvs": "ENSP00000498357.1:p.Arg95Ter", "hgvsWellDefined": "ENSP00000498357.1:p.Arg96_Thr1018delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772311" }, { "coordinates": [ { "allele": "T", "end": 2210, "referenceAllele": "C", "start": 2209 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000355739.8:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000347978.4:p.Arg263Ter", "hgvsWellDefined": "ENSP00000347978.4:p.Arg264_Thr1186delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263535" }, { "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "ENST00000602836.1:c.2063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS398366" }, { "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "ENST00000610537.4:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000478667.1:p.Arg263Ter", "hgvsWellDefined": "ENSP00000478667.1:p.Arg264_Thr1185delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrArgAsnThrAsnCysGlyLeuCysThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400463" }, { "@id": "http://reg.genome.network/allele/PA126679", "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "NM_000123.3:c.787C>T", "LRG_464t1:c.787C>T" ], "proteinEffect": { "hgvs": "NP_000114.2:p.Arg263Ter", "hgvsWellDefined": "NP_000114.2:p.Arg264_Thr1186delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysArgLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysArgLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006185" }, { "@id": "http://reg.genome.network/allele/PA916004659", "coordinates": [ { "allele": "T", "end": 2271, "referenceAllele": "C", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "NM_001204425.1:c.2149C>T" ], "proteinEffect": { "hgvs": "NP_001191354.1:p.Arg717Ter", "hgvsWellDefined": "NP_001191354.1:p.Arg718_Thr1640delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysArgLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysArgLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017655" }, { "@id": "http://reg.genome.network/allele/PA2825045663", "coordinates": [ { "allele": "T", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "NM_000123.4:c.787C>T" ], "proteinEffect": { "hgvs": "NP_000114.3:p.Arg263Ter", "hgvsWellDefined": "NP_000114.3:p.Arg264_Thr1186delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674712", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652225.2:c.787C>T" }, "RefSeq": { "hgvs": "NM_000123.4:c.787C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498881.2:p.Arg263Ter" }, "RefSeq": { "hgvs": "NP_000114.3:p.Arg263Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573067437", "coordinates": [ { "allele": "T", "end": 2271, "referenceAllele": "C", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "NM_001204425.2:c.2149C>T" ], "proteinEffect": { "hgvs": "NP_001191354.2:p.Arg717Ter", "hgvsWellDefined": "NP_001191354.2:p.Arg718_Thr1640delinsGlnTyrGluAspGluGlyGlyPheLeuLysGluValGluSerArgArgValValSerGluAspThrSerHisTyrIleLeuIleLysGlyIleGlnAlaLysThrValAlaGluValAspSerGluSerLeuProSerSerSerLysMetHisGlyMetSerPheAspValLysSerSerProCysGluLysLeuLysThrGluLysGluProAspAlaThrProProSerProArgThrLeuLeuAlaMetGlnAlaAlaLeuLeuGlySerSerSerGluGluGluLeuGluSerGluAsnArgArgGlnAlaArgGlyArgAsnAlaProAlaAlaValAspGluGlySerIleSerProArgThrLeuSerAlaIleLysArgAlaLeuAspAspAspGluAspValLysValCysAlaGlyAspAspValGlnThrGlyGlyProGlyAlaGluGluMetArgIleAsnSerSerThrGluAsnSerAspGluGlyLeuLysValArgAspGlyLysGlyIleProPheThrAlaThrLeuAlaSerSerSerValAsnSerAlaGluGluHisValAlaSerThrAsnGluGlyArgGluProThrAspSerValProLysGluGlnMetSerLeuValHisValGlyThrGluAlaPheProIleSerAspGluSerMetIleLysAspArgLysAspArgLeuProLeuGluSerAlaValValArgHisSerAspAlaProGlyLeuProAsnGlyArgGluLeuThrProAlaSerProThrCysThrAsnSerValSerLysAsnGluThrHisAlaGluValLeuGluGlnGlnAsnGluLeuCysProTyrGluSerLysPheAspSerSerLeuLeuSerSerAspAspGluThrLysCysLysProAsnSerAlaSerGluValIleGlyProValSerLeuGlnGluThrSerSerIleValSerValProSerGluAlaValAspAsnValGluAsnValValSerPheAsnAlaLysGluHisGluAsnPheLeuGluThrIleGlnGluGlnGlnThrThrGluSerAlaGlyGlnAspLeuIleSerIleProLysAlaValGluProMetGluIleAspSerGluGluSerGluSerAspGlySerPheIleGluValGlnSerValIleSerAspGluGluLeuGlnAlaGluPheProGluThrSerLysProProSerGluGlnGlyGluGluGluLeuValGlyThrArgGluGlyGluAlaProAlaGluSerGluSerLeuLeuArgAspAsnSerGluArgAspAspValAspGlyGluProGlnGluAlaGluLysAspAlaGluAspSerLeuHisGluTrpGlnAspIleAsnLeuGluGluLeuGluThrLeuGluSerAsnLeuLeuAlaGlnGlnAsnSerLeuLysAlaGlnLysGlnGlnGlnGluArgIleAlaAlaThrValThrGlyGlnMetPheLeuGluSerGlnGluLeuLeuArgLeuPheGlyIleProTyrIleGlnAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679846" } ], "type": "nucleotide" }