{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409676994", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=848570[alleleid]", "alleleId": 848570, "preferredName": "NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836446", "RCV": [ "RCV001037577" ], "variationId": 836446 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62319502G>T?assembly=hg19", "id": "chr20:g.62319502G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63688149G>T?assembly=hg38", "id": "chr20:g.63688149G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2090639016", "rs": 2090639016 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63688149, "referenceAllele": "G", "start": 63688148 } ], "hgvs": [ "NC_000020.11:g.63688149G>T", "CM000682.2:g.63688149G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 62319502, "referenceAllele": "G", "start": 62319501 } ], "hgvs": [ "NC_000020.10:g.62319502G>T", "CM000682.1:g.62319502G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 61789946, "referenceAllele": "G", "start": 61789945 } ], "hgvs": [ "NC_000020.9:g.61789946G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 35340, "referenceAllele": "G", "start": 35339 } ], "hgvs": [ "NG_033901.1:g.35340G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.7:n.1280G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914046" }, { "coordinates": [ { "allele": "T", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000425905.6:c.1280G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS904801" }, { "coordinates": [ { "allele": "T", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.1678G>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Glu560Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Glu560_Leu1243delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "G", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000687123.1:n.1436G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830920" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.937G>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Glu313Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Glu313_Leu996delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "G", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Glu536Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Glu536_Gln1300delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1606G>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1606G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Glu536Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Glu536Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1928, "referenceAllele": "G", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Glu536Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Glu536_Ser1004delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "T", "end": 2154, "referenceAllele": "G", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.937G>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Glu313Ter", "hgvsWellDefined": "ENSP00000322287.5:p.Glu313_Leu996delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "G", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Glu536Ter", "hgvsWellDefined": "ENSP00000353332.5:p.Glu536_Gln1300delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Glu536Ter", "hgvsWellDefined": "ENSP00000359035.3:p.Glu536_Leu1219delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000480273.5:n.1691G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320458" }, { "coordinates": [ { "allele": "T", "end": 1606, "referenceAllele": "G", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Glu536Ter", "hgvsWellDefined": "ENSP00000457868.1:p.Glu536_Ala1400delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProHisLysAspHisGluGlyAlaGlyGlyAlaArgProValAlaAlaValProGlyValGlyAlaAlaCysProAlaAlaGlyAlaGlyCysThrArgSerGlyArgAsnThrHisLeuProLeuAlaGlyArgArgAspArgGlyAlaAlaGlyValArgProValProProArgHisLeuCysAlaAlaAlaValProProArgGlnProHisAspValTrpProValSerThrAlaProLeuHisAlaValLeuGluLeuProArgAlaLeuProLeuLeuGlnArgProLeuArgGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 1793, "referenceAllele": "G", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.1690G>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Glu564Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Glu564_Ala785delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.1678G>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Glu560Ter", "hgvsWellDefined": "ENSP00000424307.2:p.Glu560_Leu1243delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826679427", "coordinates": [ { "allele": "T", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Glu536Ter", "hgvsWellDefined": "NP_001269938.1:p.Glu536_Gln1300delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826680964", "coordinates": [ { "allele": "T", "end": 2154, "referenceAllele": "G", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.937G>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Glu313Ter", "hgvsWellDefined": "NP_001269939.1:p.Glu313_Leu996delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2829835257", "coordinates": [ { "allele": "T", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Glu536Ter", "hgvsWellDefined": "NP_057518.1:p.Glu536_Leu1219delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA1139757550", "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.1678G>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Glu560Ter", "hgvsWellDefined": "NP_116575.3:p.Glu560_Leu1243delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 2433, "referenceAllele": "G", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.2433G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826679427", "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "G", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Glu536Ter", "hgvsWellDefined": "NP_001269938.1:p.Glu536_Gln1300delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.1606G>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.1606G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Glu536Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Glu536Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829835257", "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "G", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Glu536Ter", "hgvsWellDefined": "NP_057518.1:p.Glu536_Leu1219delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA1139757550", "coordinates": [ { "allele": "T", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.1678G>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Glu560Ter", "hgvsWellDefined": "NP_116575.3:p.Glu560_Leu1243delinsCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }