{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409676179", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2083830[alleleid]", "alleleId": 2083830, "preferredName": "NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2023349", "RCV": [ "RCV002875828" ], "variationId": 2023349 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62319009G>A?assembly=hg19", "id": "chr20:g.62319009G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63687656G>A?assembly=hg38", "id": "chr20:g.63687656G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2517111998", "rs": 2517111998 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63687656, "referenceAllele": "G", "start": 63687655 } ], "hgvs": [ "NC_000020.11:g.63687656G>A", "CM000682.2:g.63687656G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62319009, "referenceAllele": "G", "start": 62319008 } ], "hgvs": [ "NC_000020.10:g.62319009G>A", "CM000682.1:g.62319009G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61789453, "referenceAllele": "G", "start": 61789452 } ], "hgvs": [ "NC_000020.9:g.61789453G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 34847, "referenceAllele": "G", "start": 34846 } ], "hgvs": [ "NG_033901.1:g.34847G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.7:n.1041G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS914046" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.6:c.1041G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS904801" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.1439G>A" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Trp480Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Trp480_Leu1243delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000687123.1:n.1197G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830920" }, { "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.698G>A" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Trp233Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Trp233_Leu996delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.1367G>A" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Trp456Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Trp456_Gln1300delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1367G>A" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1367G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Trp456Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Trp456Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "G", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.1367G>A" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Trp456Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Trp456_Ser1004delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.698G>A" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Trp233Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Trp233_Leu996delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.1367G>A" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Trp456Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Trp456_Gln1300delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.1367G>A" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Trp456Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Trp456_Leu1219delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "G", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000480273.5:n.1286G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320458" }, { "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.1367G>A" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Trp456Ter", "hgvsWellDefined": "ENSP00000457868.1:p.Trp456_Ala1400delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProHisLysAspHisGluGlyAlaGlyGlyAlaArgProValAlaAlaValProGlyValGlyAlaAlaCysProAlaAlaGlyAlaGlyCysThrArgSerGlyArgAsnThrHisLeuProLeuAlaGlyArgArgAspArgGlyAlaAlaGlyValArgProValProProArgHisLeuCysAlaAlaAlaValProProArgGlnProHisAspValTrpProValSerThrAlaProLeuHisAlaValLeuGluLeuProArgAlaLeuProLeuLeuGlnArgProLeuArgGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "A", "end": 1554, "referenceAllele": "G", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.1451G>A" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Trp484Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Trp484_Ala785delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.1439G>A" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Trp480Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Trp480_Leu1243delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826679334", "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.1367G>A" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Trp456Ter", "hgvsWellDefined": "NP_001269938.1:p.Trp456_Gln1300delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826680871", "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.698G>A" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Trp233Ter", "hgvsWellDefined": "NP_001269939.1:p.Trp233_Leu996delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829835126", "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.1367G>A" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Trp456Ter", "hgvsWellDefined": "NP_057518.1:p.Trp456_Leu1219delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA2580487621", "coordinates": [ { "allele": "A", "end": 2266, "referenceAllele": "G", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.1439G>A" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Trp480Ter", "hgvsWellDefined": "NP_116575.3:p.Trp480_Leu1243delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.2194G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826679334", "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.1367G>A" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Trp456Ter", "hgvsWellDefined": "NP_001269938.1:p.Trp456_Gln1300delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1367G>A" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1367G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Trp456Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Trp456Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829835126", "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "G", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.1367G>A" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Trp456Ter", "hgvsWellDefined": "NP_057518.1:p.Trp456_Leu1219delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA2580487621", "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.1439G>A" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Trp480Ter", "hgvsWellDefined": "NP_116575.3:p.Trp480_Leu1243delinsCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }