{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409679004", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6385339", "active": true, "id": "COSM6385339" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6385340", "active": true, "id": "COSM6385340" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6385341", "active": true, "id": "COSM6385341" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951162[alleleid]", "alleleId": 951162, "preferredName": "NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/957069", "RCV": [ "RCV001229984" ], "variationId": 957069 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62321115C>T?assembly=hg19", "id": "chr20:g.62321115C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63689762C>T?assembly=hg38", "id": "chr20:g.63689762C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2090682958", "rs": 2090682958 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63689762, "referenceAllele": "C", "start": 63689761 } ], "hgvs": [ "NC_000020.11:g.63689762C>T", "CM000682.2:g.63689762C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 62321115, "referenceAllele": "C", "start": 62321114 } ], "hgvs": [ "NC_000020.10:g.62321115C>T", "CM000682.1:g.62321115C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 61791559, "referenceAllele": "C", "start": 61791558 } ], "hgvs": [ "NC_000020.9:g.61791559C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 36953, "referenceAllele": "C", "start": 36952 } ], "hgvs": [ "NG_033901.1:g.36953C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.7:n.1565C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914046" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.6:c.1565C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS904801" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000697814.1:n.228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909002" }, { "coordinates": [ { "allele": "T", "end": 2435, "referenceAllele": "C", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.2110C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Gln704Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Gln704_Leu1243delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "T", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000687123.1:n.1721C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830920" }, { "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "C", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.1369C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Gln457Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Gln457_Leu996delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.2038C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Gln680Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Gln680_Gln1300delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2038C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2038C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Gln680Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Gln680Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2360, "referenceAllele": "C", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.2038C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Gln680Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Gln680_Ser1004delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.2:n.861C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757824" }, { "coordinates": [ { "allele": "T", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.1369C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Gln457Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Gln457_Leu996delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.2038C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Gln680Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Gln680_Gln1300delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.2038C>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Gln680Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Gln680_Leu1219delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.5:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000388063.1:p.Gln73Ter", "hgvsWellDefined": "ENSP00000388063.1:p.Gln73Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS288974" }, { "coordinates": [ { "allele": "T", "end": 2123, "referenceAllele": "C", "start": 2122 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000480273.5:n.2123C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320458" }, { "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "C", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.2038C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Gln680Ter", "hgvsWellDefined": "ENSP00000457868.1:p.Gln680_Ala1400delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProHisLysAspHisGluGlyAlaGlyGlyAlaArgProValAlaAlaValProGlyValGlyAlaAlaCysProAlaAlaGlyAlaGlyCysThrArgSerGlyArgAsnThrHisLeuProLeuAlaGlyArgArgAspArgGlyAlaAlaGlyValArgProValProProArgHisLeuCysAlaAlaAlaValProProArgGlnProHisAspValTrpProValSerThrAlaProLeuHisAlaValLeuGluLeuProArgAlaLeuProLeuLeuGlnArgProLeuArgGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 2225, "referenceAllele": "C", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.2122C>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Gln708Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Gln708_Ala785delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.1:n.332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332794" }, { "coordinates": [ { "allele": "T", "end": 2456, "referenceAllele": "C", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.2110C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Gln704Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Gln704_Leu1243delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826679612", "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.2038C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Gln680Ter", "hgvsWellDefined": "NP_001269938.1:p.Gln680_Gln1300delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826681147", "coordinates": [ { "allele": "T", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.1369C>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Gln457Ter", "hgvsWellDefined": "NP_001269939.1:p.Gln457_Leu996delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829835538", "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.2038C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Gln680Ter", "hgvsWellDefined": "NP_057518.1:p.Gln680_Leu1219delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA1139757663", "coordinates": [ { "allele": "T", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.2110C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Gln704Ter", "hgvsWellDefined": "NP_116575.3:p.Gln704_Leu1243delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.2865C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826679612", "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.2038C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Gln680Ter", "hgvsWellDefined": "NP_001269938.1:p.Gln680_Gln1300delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2038C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2038C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Gln680Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Gln680Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829835538", "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.2038C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Gln680Ter", "hgvsWellDefined": "NP_057518.1:p.Gln680_Leu1219delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA1139757663", "coordinates": [ { "allele": "T", "end": 2435, "referenceAllele": "C", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.2110C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Gln704Ter", "hgvsWellDefined": "NP_116575.3:p.Gln704_Leu1243delinsGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }