{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278466697", "communityStandardTitle": [ "NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1916739[alleleid]", "alleleId": 1916739, "preferredName": "NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2181510", "RCV": [ "RCV002595685" ], "variationId": 2181510 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14024646T>A?assembly=hg19", "id": "chr16:g.14024646T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.13930789T>A?assembly=hg38", "id": "chr16:g.13930789T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/900093826", "rs": 900093826 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-13930789-T-A?dataset=gnomad_r4", "id": "16-13930789-T-A", "variant": "16:13930789 T / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 13930789, "referenceAllele": "T", "start": 13930788 } ], "hgvs": [ "NC_000016.10:g.13930789T>A", "CM000678.2:g.13930789T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 14024646, "referenceAllele": "T", "start": 14024645 } ], "hgvs": [ "NC_000016.9:g.14024646T>A", "CM000678.1:g.14024646T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 13932147, "referenceAllele": "T", "start": 13932146 } ], "hgvs": [ "NC_000016.8:g.13932147T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 15633, "referenceAllele": "T", "start": 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"NP_005227.1:p.Leu291_Lys916delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030348" }, { "coordinates": [ { "allele": "A", "end": 1031, "referenceAllele": "T", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.1:c.1010T>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Leu337Ter", "hgvsWellDefined": "XP_011520726.1:p.Leu337_Lys962delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089576" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "T", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522425.1:c.329T>A" ], "proteinEffect": { "hgvs": "XP_011520727.1:p.Leu110Ter", "hgvsWellDefined": "XP_011520727.1:p.Leu110_Lys735delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089577" }, { "coordinates": [ { "allele": "A", "end": 180, "referenceAllele": "T", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522426.1:c.83T>A" ], "proteinEffect": { "hgvs": "XP_011520728.1:p.Leu28Ter", "hgvsWellDefined": "XP_011520728.1:p.Leu28_Lys653delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089578" }, { "coordinates": [ { "allele": "A", "end": 1031, "referenceAllele": "T", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XR_932805.1:n.1031T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128721" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_011522424.3:c.1010T>A" ], "proteinEffect": { "hgvs": "XP_011520726.1:p.Leu337Ter", "hgvsWellDefined": "XP_011520726.1:p.Leu337_Lys962delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546577" }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "T", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "XM_017023043.2:c.83T>A" ], "proteinEffect": { "hgvs": "XP_016878532.1:p.Leu28Ter", "hgvsWellDefined": "XP_016878532.1:p.Leu28_Lys653delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573869" }, { "@id": "http://reg.genome.network/allele/PA2580317383", "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "T", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN003436", "geneNCBI_id": 2072, "geneSymbol": "ERCC4", "hgvs": [ "NM_005236.3:c.872T>A" ], "proteinEffect": { "hgvs": "NP_005227.1:p.Leu291Ter", "hgvsWellDefined": "NP_005227.1:p.Leu291_Lys916delinsArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696357", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311895.8:c.872T>A" }, "RefSeq": { "hgvs": "NM_005236.3:c.872T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310520.7:p.Leu291Ter" }, "RefSeq": { "hgvs": "NP_005227.1:p.Leu291Ter" } } } } ], "type": "nucleotide" }