{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409672865", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3107182[alleleid]", "alleleId": 3107182, "preferredName": "NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941651", "RCV": [ "RCV003802673" ], "variationId": 2941651 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62305377G>T?assembly=hg19", "id": "chr20:g.62305377G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63674024G>T?assembly=hg38", "id": "chr20:g.63674024G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2517039957", "rs": 2517039957 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63674024, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "G", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000356810.5:c.1000G>T" ], "proteinEffect": { "hgvs": "ENSP00000349265.4:p.Glu334Ter", "hgvsWellDefined": "ENSP00000349265.4:p.Glu334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263883" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.850G>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Glu284Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.850G>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Glu284Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Glu285_Leu1219delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000463361.1:n.547G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307412" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.850G>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Glu284Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.850G>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Glu284Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Glu285_Ala785delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysSerLysCysCysProProArgLeuLeuAlaAlaGlyTrpGlyLeuLeuLeuAlaArgArgTrpValThrProProArgProThrValIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.922G>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Glu308Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Glu309_Leu1243delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.850G>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Glu284Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2741852796", "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "G", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.181G>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Glu61Ter", "hgvsWellDefined": "NP_001269939.1:p.Glu62_Leu996delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829834864", "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.850G>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Glu284Ter", "hgvsWellDefined": "NP_057518.1:p.Glu285_Leu1219delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA2830106663", "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.922G>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Glu308Ter", "hgvsWellDefined": "NP_116575.3:p.Glu309_Leu1243delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 1677, "referenceAllele": "G", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.1677G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.850G>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Glu284Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.850G>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.850G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Glu284Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Glu284Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829834864", "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.850G>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Glu284Ter", "hgvsWellDefined": "NP_057518.1:p.Glu285_Leu1219delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA2830106663", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.922G>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Glu308Ter", "hgvsWellDefined": "NP_116575.3:p.Glu309_Leu1243delinsGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }