{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2267576", "communityStandardTitle": [ "NM_004628.5(XPC):c.877C>T (p.Arg293Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543024[alleleid]", "alleleId": 543024, "preferredName": "NM_004628.5(XPC):c.877C>T (p.Arg293Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554485", "RCV": [ "RCV000670127", "RCV002531245", "RCV003403557" ], "variationId": 554485 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-14206336-G-A", "id": "3-14206336-G-A", "variant": "3:14206336 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14206336G>A?assembly=hg19", "id": "chr3:g.14206336G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14164836G>A?assembly=hg38", "id": "chr3:g.14164836G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373519125", "rs": 373519125 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14206336-G-A?dataset=gnomad_r2_1", "id": "3-14206336-G-A", "variant": "3:14206336 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14164836-G-A?dataset=gnomad_r3", "id": "3-14164836-G-A", "variant": "3:14164836 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14164836-G-A?dataset=gnomad_r4", "id": "3-14164836-G-A", "variant": "3:14164836 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14164836, "referenceAllele": "G", "start": 14164835 } ], "hgvs": [ "NC_000003.12:g.14164836G>A", "CM000665.2:g.14164836G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14206336, "referenceAllele": "G", "start": 14206335 } ], "hgvs": [ "NC_000003.11:g.14206336G>A", "CM000665.1:g.14206336G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14181340, "referenceAllele": "G", "start": 14181339 } ], "hgvs": [ "NC_000003.10:g.14181340G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 18837, "referenceAllele": "C", "start": 18836 } ], "hgvs": [ "NG_011763.1:g.18837C>T", "LRG_472:g.18837C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Arg293Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Arg293_Leu940delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.877C>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Arg293Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Arg293Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Arg293Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Arg293_Leu940delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000455144.6:n.488C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS302903" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.*330C>T" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.*330C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000477324.6:n.355C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318167" }, { "@id": "http://reg.genome.network/allele/PA658828986", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.877C>T", "LRG_472t1:c.877C>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Arg293Ter", "hgvsWellDefined": "NP_004619.3:p.Arg293_Leu940delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.857C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Arg293Ter", "hgvsWellDefined": "XP_011532394.1:p.Arg293_Leu851delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Arg293Ter", "hgvsWellDefined": "XP_011532395.1:p.Arg293_Pro689delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "@id": "http://reg.genome.network/allele/PA2827927054", "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341655.1:p.Arg100_Leu747delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927620", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Arg293Ter", "hgvsWellDefined": "NP_001341656.1:p.Arg293_Leu938delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928136", "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.859C>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Arg287Ter", "hgvsWellDefined": "NP_001341658.1:p.Arg287_Leu934delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928703", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Arg293Ter", "hgvsWellDefined": "NP_001341659.1:p.Arg293_Leu858delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.981C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.857C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927620", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Arg293Ter", "hgvsWellDefined": "NP_001341656.1:p.Arg293_Leu938delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA658828986", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.877C>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Arg293Ter", "hgvsWellDefined": "NP_004619.3:p.Arg293_Leu940delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.877C>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Arg293Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Arg293Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.786C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "@id": "http://reg.genome.network/allele/PA2827927054", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341655.1:p.Arg100_Leu747delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928136", "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.859C>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Arg287Ter", "hgvsWellDefined": "NP_001341658.1:p.Arg287_Leu934delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928703", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Arg293Ter", "hgvsWellDefined": "NP_001341659.1:p.Arg293_Leu858delinsAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }