{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409657520", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2003155[alleleid]", "alleleId": 2003155, "preferredName": "NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1949453", "RCV": [ "RCV002659462" ], "variationId": 1949453 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62290816C>T?assembly=hg19", "id": "chr20:g.62290816C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63659463C>T?assembly=hg38", "id": "chr20:g.63659463C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2516986131", "rs": 2516986131 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63659463-C-T?dataset=gnomad_r4", "id": "20-63659463-C-T", "variant": "20:63659463 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 63659463, "referenceAllele": "C", "start": 63659462 } ], "hgvs": [ "NC_000020.11:g.63659463C>T", "CM000682.2:g.63659463C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 62290816, "referenceAllele": "C", "start": 62290815 } ], "hgvs": [ "NC_000020.10:g.62290816C>T", "CM000682.1:g.62290816C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 61761260, "referenceAllele": "C", "start": 61761259 } ], "hgvs": [ "NC_000020.9:g.61761260C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 6654, "referenceAllele": "C", "start": 6653 } ], "hgvs": [ "NG_033901.1:g.6654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000488316.2:n.331C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905347" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000684971.1:n.386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829818" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000686756.1:n.379C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830724" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "C", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000692658.1:n.393C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833817" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000692911.1:n.788C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833950" }, { "coordinates": [ { "allele": "T", "end": 146, "endIntronDirection": "+", "endIntronOffset": 1004, "referenceAllele": "C", "start": 146, "startIntronDirection": "+", "startIntronOffset": 1003 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.-568+1004C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:n.-568+1004C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.61C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.61C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Gln21Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Gln21Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Gln21Ter", "hgvsWellDefined": "ENSP00000457868.2:p.Gln22_Ser1004delinsGluTyrMetThrLysValLeuGluCysLeuGlnGlnLysValAsnGlyIleLeuGluSerProThrGlyThrGlyLysThrLeuCysLeuLeuCysThrThrLeuAlaTrpArgGluHisLeuArgAspGlyIleSerAlaArgLysIleAlaGluArgAlaGlnGlyGluLeuPheProAspArgAlaLeuSerSerTrpGlyAsnAlaAlaAlaAlaAlaGlyAspProIleAlaCysTyrThrAspIleProLysIleIleTyrAlaSerArgThrHisSerGlnLeuThrGlnValIleAsnGluLeuArgAsnThrSerTyrArgProLysValCysValLeuGlySerArgGluGlnLeuCysIleHisProGluValLysLysGlnGluSerAsnHisLeuGlnIleHisLeuCysArgLysLysValAlaSerArgSerCysHisPheTyrAsnAsnValGluGluLysSerLeuGluGlnGluLeuAlaSerProIleLeuAspIleGluAspLeuValLysSerGlySerLysHisArgValCysProTyrTyrLeuSerArgAsnLeuLysGlnGlnAlaAspIleIlePheMetProTyrAsnTyrLeuLeuAspAlaLysSerArgArgAlaHisAsnIleAspLeuLysGlyThrValValIlePheAspGluAlaHisAsnValGluLysMetCysGluGluSerAlaSerPheAspLeuThrProHisAspLeuAlaSerGlyLeuAspValIleAspGlnValLeuGluGluGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysMetIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000646389.1:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000494280.1:p.Gln21Ter", "hgvsWellDefined": "ENSP00000494280.1:p.Gln21_Trp89del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768846" }, { "coordinates": [ { "allele": "T", "end": 650, "endIntronDirection": "+", "endIntronOffset": 1004, "referenceAllele": "C", "start": 650, "startIntronDirection": "+", "startIntronOffset": 1003 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.-568+1004C>T" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:n.-568+1004C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000356810.5:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000349265.4:p.Gln21Ter", "hgvsWellDefined": "ENSP00000349265.4:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263883" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000469728.5:n.404C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312342" }, { "coordinates": [ { "allele": "T", "end": 61, "referenceAllele": "C", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000488316.1:n.315C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326646" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "C", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:p.Gln21Ter", "hgvsWellDefined": "ENSP00000457428.1:p.Gln22_Ala785delinsGluTyrMetThrLysValLeuGluCysLeuGlnGlnLysValAsnGlyIleLeuGluSerProThrGlyThrGlyLysThrLeuCysLeuLeuCysThrThrLeuAlaTrpArgGluHisLeuArgAspGlyIleSerAlaArgLysIleAlaGluArgAlaGlnGlyGluLeuPheProAspArgAlaLeuSerSerTrpGlyAsnAlaAlaAlaAlaAlaGlyAspProIleAlaCysTyrThrAspIleProLysIleIleTyrAlaSerArgThrHisSerGlnLeuThrGlnValIleAsnGluLeuArgAsnThrSerTyrArgProLysValCysValLeuGlySerArgGluGlnLeuCysIleHisProGluValLysLysGlnGluSerAsnHisLeuGlnIleHisLeuCysArgLysLysValAlaSerArgSerCysHisPheTyrAsnAsnValGluGluLysSerLeuGluGlnGluLeuAlaSerProIleLeuAspIleGluAspLeuValLysSerGlySerLysHisArgValCysProTyrTyrLeuSerArgAsnLeuLysGlnGlnAlaAspIleIlePheMetProTyrAsnTyrLeuLeuAspAlaLysSerArgArgAlaHisAsnIleAspLeuLysGlyThrValValIlePheAspGluAlaHisAsnValGluLysMetCysGluGluSerAlaSerPheAspLeuThrProHisAspLeuAlaSerGlyLeuAspValIleAspGlnValLeuGluGluGlnThrLysAlaAlaGlnGlnGlyGluProHisProGluPheSerAlaAspSerProSerProGlyLeuAsnMetGluLeuGluAspIleAlaLysLeuLysSerLysCysCysProProArgLeuLeuAlaAlaGlyTrpGlyLeuLeuLeuAlaArgArgTrpValThrProProArgProThrValIleLeuLeuArgLeuGluGlyAlaIleAspAlaValGluLeuProGlyAspAspSerGlyValThrLysProGlySerTyrIlePheGluLeuPheAlaGluAlaGlnIleThrPheGlnThrLysGlyCysIleLeuAspSerLeuAspGlnIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "coordinates": [ { "allele": "T", "end": 650, "endIntronDirection": "+", "endIntronOffset": 1004, "referenceAllele": "C", "start": 650, "startIntronDirection": "+", "startIntronOffset": 1003 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.-568+1004C>T" ], "proteinEffect": { "hgvs": "NP_001269939.1:n.-568+1004C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.61C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.61C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.888C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.61C>T" }, "RefSeq": { "hgvs": "NM_001283009.2:c.61C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Gln21Ter" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Gln21Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.61C>T" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.61C>T" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Gln21Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }