{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351541358", "communityStandardTitle": [ "NM_004628.5(XPC):c.977C>G (p.Ser326Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5987203", "active": true, "id": "COSM5987203" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835499[alleleid]", "alleleId": 2835499, "preferredName": "NM_004628.5(XPC):c.977C>G (p.Ser326Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679651", "RCV": [ "RCV003466570" ], "variationId": 2679651 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14201254G>C?assembly=hg19", "id": "chr3:g.14201254G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14159754G>C?assembly=hg38", "id": "chr3:g.14159754G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/924205965", "rs": 924205965 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14159754-G-C?dataset=gnomad_r4", "id": "3-14159754-G-C", "variant": "3:14159754 G / C" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 14159754, "referenceAllele": "G", "start": 14159753 } ], "hgvs": [ "NC_000003.12:g.14159754G>C", "CM000665.2:g.14159754G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 14201254, "referenceAllele": "G", "start": 14201253 } ], "hgvs": [ "NC_000003.11:g.14201254G>C", "CM000665.1:g.14201254G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 14176258, "referenceAllele": "G", "start": 14176257 } ], "hgvs": [ "NC_000003.10:g.14176258G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 23919, "referenceAllele": "C", "start": 23918 } ], "hgvs": [ "NG_011763.1:g.23919C>G", "LRG_472:g.23919C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.977C>G" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Ser326Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Ser326_Leu940delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.977C>G" }, "RefSeq": { "hgvs": "NM_004628.5:c.977C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Ser326Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Ser326Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.977C>G" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Ser326Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Ser326_Leu940delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.*430C>G" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.*430C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "coordinates": [ { "allele": "G", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000477324.6:n.455C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS318167" }, { "@id": "http://reg.genome.network/allele/PA2741916084", "coordinates": [ { "allele": "G", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.977C>G", "LRG_472t1:c.977C>G" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Ser326Ter", "hgvsWellDefined": "NP_004619.3:p.Ser326_Leu940delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.957C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "G", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.977C>G" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Ser326Ter", "hgvsWellDefined": "XP_011532394.1:p.Ser326_Leu851delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "G", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.977C>G" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Ser326Ter", "hgvsWellDefined": "XP_011532395.1:p.Ser326_Pro689delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "@id": "http://reg.genome.network/allele/PA2827927074", "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.398C>G" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Ser133Ter", "hgvsWellDefined": "NP_001341655.1:p.Ser133_Leu747delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927642", "coordinates": [ { "allele": "G", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.977C>G" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Ser326Ter", "hgvsWellDefined": "NP_001341656.1:p.Ser326_Leu938delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928157", "coordinates": [ { "allele": "G", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.959C>G" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Ser320Ter", "hgvsWellDefined": "NP_001341658.1:p.Ser320_Leu934delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928724", "coordinates": [ { "allele": "G", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.977C>G" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Ser326Ter", "hgvsWellDefined": "NP_001341659.1:p.Ser326_Leu858delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "G", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.1081C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.957C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.1010C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.1010C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.1010C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927642", "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.977C>G" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Ser326Ter", "hgvsWellDefined": "NP_001341656.1:p.Ser326_Leu938delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA2741916084", "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.977C>G" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Ser326Ter", "hgvsWellDefined": "NP_004619.3:p.Ser326_Leu940delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.977C>G" }, "RefSeq": { "hgvs": "NM_004628.5:c.977C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Ser326Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Ser326Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.1010C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.886C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "@id": "http://reg.genome.network/allele/PA2827927074", "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.398C>G" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Ser133Ter", "hgvsWellDefined": "NP_001341655.1:p.Ser133_Leu747delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928157", "coordinates": [ { "allele": "G", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.959C>G" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Ser320Ter", "hgvsWellDefined": "NP_001341658.1:p.Ser320_Leu934delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928724", "coordinates": [ { "allele": "G", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.977C>G" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Ser326Ter", "hgvsWellDefined": "NP_001341659.1:p.Ser326_Leu858delinsAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }