{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9965161", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951163[alleleid]", "alleleId": 951163, "preferredName": "NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959673", "RCV": [ "RCV001233061", "RCV003469423" ], "variationId": 959673 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-62321166-C-T", "id": "20-62321166-C-T", "variant": "20:62321166 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62321166C>T?assembly=hg19", "id": "chr20:g.62321166C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63689813C>T?assembly=hg38", "id": "chr20:g.63689813C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768188490", "rs": 768188490 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-62321166-C-T?dataset=gnomad_r2_1", "id": "20-62321166-C-T", "variant": "20:62321166 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63689813-C-T?dataset=gnomad_r3", "id": "20-63689813-C-T", "variant": "20:63689813 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63689813-C-T?dataset=gnomad_r4", "id": "20-63689813-C-T", "variant": "20:63689813 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63689813, "referenceAllele": "C", "start": 63689812 } ], "hgvs": [ "NC_000020.11:g.63689813C>T", "CM000682.2:g.63689813C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 62321166, "referenceAllele": "C", "start": 62321165 } ], "hgvs": [ "NC_000020.10:g.62321166C>T", "CM000682.1:g.62321166C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 61791610, "referenceAllele": "C", "start": 61791609 } ], "hgvs": [ "NC_000020.9:g.61791610C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 37004, "referenceAllele": "C", "start": 37003 } ], "hgvs": [ "NG_033901.1:g.37004C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.7:n.1616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914046" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.6:c.1616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS904801" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000697814.1:n.279C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909002" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000697815.1:n.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909003" }, { "coordinates": [ { "allele": "T", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.2161C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg721Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Arg721_Leu1243delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "T", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000687123.1:n.1772C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830920" }, { "coordinates": [ { "allele": "T", "end": 2133, "referenceAllele": "C", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg474Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Arg474_Leu996delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg697Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Arg697_Gln1300delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2089C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2089C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg697Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg697Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Arg697Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Arg697_Ser1004delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.2:n.912C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757824" }, { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg474Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Arg474_Leu996delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg697Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Arg697_Gln1300delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Arg697Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Arg697_Leu1219delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.5:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000388063.1:p.Arg90Ter", "hgvsWellDefined": "ENSP00000388063.1:p.Arg90Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS288974" }, { "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000480273.5:n.2174C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320458" }, { "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Arg697Ter", "hgvsWellDefined": "ENSP00000457868.1:p.Arg697_Ala1400delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProHisLysAspHisGluGlyAlaGlyGlyAlaArgProValAlaAlaValProGlyValGlyAlaAlaCysProAlaAlaGlyAlaGlyCysThrArgSerGlyArgAsnThrHisLeuProLeuAlaGlyArgArgAspArgGlyAlaAlaGlyValArgProValProProArgHisLeuCysAlaAlaAlaValProProArgGlnProHisAspValTrpProValSerThrAlaProLeuHisAlaValLeuGluLeuProArgAlaLeuProLeuLeuGlnArgProLeuArgGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.2173C>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Arg725Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Arg725_Ala785delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.1:n.383C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332794" }, { "coordinates": [ { "allele": "T", "end": 2507, "referenceAllele": "C", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.2161C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg721Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Arg721_Leu1243delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826679632", "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg697Ter", "hgvsWellDefined": "NP_001269938.1:p.Arg697_Gln1300delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826681167", "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.1420C>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Arg474Ter", "hgvsWellDefined": "NP_001269939.1:p.Arg474_Leu996delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829835577", "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg697Ter", "hgvsWellDefined": "NP_057518.1:p.Arg697_Leu1219delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA1139757672", "coordinates": [ { "allele": "T", "end": 2988, "referenceAllele": "C", "start": 2987 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.2161C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg721Ter", "hgvsWellDefined": "NP_116575.3:p.Arg721_Leu1243delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.2916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826679632", "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg697Ter", "hgvsWellDefined": "NP_001269938.1:p.Arg697_Gln1300delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2089C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2089C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg697Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg697Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829835577", "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg697Ter", "hgvsWellDefined": "NP_057518.1:p.Arg697_Leu1219delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA1139757672", "coordinates": [ { "allele": "T", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.2161C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg721Ter", "hgvsWellDefined": "NP_116575.3:p.Arg721_Leu1243delinsValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }