{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351541716", "communityStandardTitle": [ "NM_004628.5(XPC):c.856A>T (p.Arg286Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224629[alleleid]", "alleleId": 3224629, "preferredName": "NM_004628.5(XPC):c.856A>T (p.Arg286Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064424", "RCV": [ "RCV003988964" ], "variationId": 3064424 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14206357T>A?assembly=hg19", "id": "chr3:g.14206357T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14164857T>A?assembly=hg38", "id": "chr3:g.14164857T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2470278370", "rs": 2470278370 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14164857, "referenceAllele": "T", "start": 14164856 } ], "hgvs": [ "NC_000003.12:g.14164857T>A", "CM000665.2:g.14164857T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14206357, "referenceAllele": "T", "start": 14206356 } ], "hgvs": [ "NC_000003.11:g.14206357T>A", "CM000665.1:g.14206357T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14181361, "referenceAllele": "T", "start": 14181360 } ], "hgvs": [ "NC_000003.10:g.14181361T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 18816, "referenceAllele": "A", "start": 18815 } ], "hgvs": [ "NG_011763.1:g.18816A>T", "LRG_472:g.18816A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.856A>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Arg286Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Arg286_Leu940delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.856A>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.856A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Arg286Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Arg286Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "A", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.856A>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Arg286Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Arg286_Leu940delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "T", "end": 467, "referenceAllele": "A", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000455144.6:n.467A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS302903" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "A", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.*309A>T" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.*309A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "A", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000477324.6:n.334A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318167" }, { "@id": "http://reg.genome.network/allele/PA2829556615", "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.856A>T", "LRG_472t1:c.856A>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Arg286Ter", "hgvsWellDefined": "NP_004619.3:p.Arg286_Leu940delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "A", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.836A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "A", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.856A>T" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Arg286Ter", "hgvsWellDefined": "XP_011532394.1:p.Arg286_Leu851delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "A", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.856A>T" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Arg286Ter", "hgvsWellDefined": "XP_011532395.1:p.Arg286_Pro689delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "@id": "http://reg.genome.network/allele/PA2741867970", "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "A", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.277A>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Arg93Ter", "hgvsWellDefined": "NP_001341655.1:p.Arg93_Leu747delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927615", "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.856A>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Arg286Ter", "hgvsWellDefined": "NP_001341656.1:p.Arg286_Leu938delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928130", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "A", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.838A>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Arg280Ter", "hgvsWellDefined": "NP_001341658.1:p.Arg280_Leu934delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928697", "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.856A>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Arg286Ter", "hgvsWellDefined": "NP_001341659.1:p.Arg286_Leu858delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.960A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "A", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.836A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.889A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.889A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.889A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927615", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.856A>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Arg286Ter", "hgvsWellDefined": "NP_001341656.1:p.Arg286_Leu938delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA2829556615", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.856A>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Arg286Ter", "hgvsWellDefined": "NP_004619.3:p.Arg286_Leu940delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.856A>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.856A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Arg286Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Arg286Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.889A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "A", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.765A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "@id": "http://reg.genome.network/allele/PA2741867970", "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "A", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.277A>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Arg93Ter", "hgvsWellDefined": "NP_001341655.1:p.Arg93_Leu747delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928130", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "A", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.838A>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Arg280Ter", "hgvsWellDefined": "NP_001341658.1:p.Arg280_Leu934delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928697", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.856A>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Arg286Ter", "hgvsWellDefined": "NP_001341659.1:p.Arg286_Leu858delinsPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }