{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA359082862", "communityStandardTitle": [ "NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=829942[alleleid]", "alleleId": 829942, "preferredName": "NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/842734", "RCV": [ "RCV003103904" ], "variationId": 842734 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.1282570C>T?assembly=hg19", "id": "chr5:g.1282570C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.1282455C>T?assembly=hg38", "id": "chr5:g.1282455C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1750086002", "rs": 1750086002 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 1282455, "referenceAllele": "C", "start": 1282454 } ], "hgvs": [ "NC_000005.10:g.1282455C>T", "CM000667.2:g.1282455C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 1282570, "referenceAllele": "C", "start": 1282569 } ], "hgvs": [ "NC_000005.9:g.1282570C>T", "CM000667.1:g.1282570C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 1335570, "referenceAllele": "C", "start": 1335569 } ], "hgvs": [ "NC_000005.8:g.1335570C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 17593, "referenceAllele": "G", "start": 17592 } ], "hgvs": [ "NG_009265.1:g.17593G>A", "LRG_343:g.17593G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001529" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000310581.10:c.1743G>A" ], "proteinEffect": { "hgvs": "ENSP00000309572.5:p.Trp581Ter", "hgvsWellDefined": "ENSP00000309572.5:p.Trp581_Asp1132delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310581.10:c.1743G>A" }, "RefSeq": { "hgvs": "NM_198253.3:c.1743G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309572.5:p.Trp581Ter" }, "RefSeq": { "hgvs": "NP_937983.2:p.Trp581Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3072, "referenceAllele": "G", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000656021.1:c.*1289G>A" ], "proteinEffect": { "hgvs": "ENSP00000499759.1:n.*1289G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772520" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000310581.9:c.1743G>A" ], "proteinEffect": { "hgvs": "ENSP00000309572.5:p.Trp581Ter", "hgvsWellDefined": "ENSP00000309572.5:p.Trp581_Asp1132delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256389" }, { "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "G", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000334602.10:c.1743G>A" ], "proteinEffect": { "hgvs": "ENSP00000334346.6:p.Trp581Ter", "hgvsWellDefined": "ENSP00000334346.6:p.Trp581_Asp1069delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259958" }, { "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "G", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000460137.6:c.1743G>A" ], "proteinEffect": { "hgvs": "ENSP00000425003.1:p.Trp581Ter", "hgvsWellDefined": "ENSP00000425003.1:p.Trp581_Gly795delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValLeuArgProValProGlyAspProAlaGlyLeuHisProLeuHisAlaAlaLeuGlnProValLeuArgArgHisGlyGluGlnAlaValCysGlyAspSerAlaGlyArgAlaAlaProAlaPheGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304942" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000484238.6:n.556G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323535" }, { "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "G", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000508104.2:c.1743G>A" ], "proteinEffect": { "hgvs": "ENSP00000426042.2:p.Trp581Ter", "hgvsWellDefined": "ENSP00000426042.2:p.Trp581_Gly807delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValLeuArgProValProGlyAspProAlaGlyLeuHisProLeuHisAlaAlaLeuGlnProValLeuArgArgHisGlyGluGlnAlaValCysGlyAspSerAlaGlyArgAlaAlaProAlaPheGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339212" }, { "@id": "http://reg.genome.network/allele/PA2826182229", "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.1:c.1743G>A" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Trp581Ter", "hgvsWellDefined": "NP_001180305.1:p.Trp581_Asp1069delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016377" }, { "@id": "http://reg.genome.network/allele/PA1139766005", "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_198253.2:c.1743G>A", "LRG_343t1:c.1743G>A" ], "proteinEffect": { "hgvs": "NP_937983.2:p.Trp581Ter", "hgvsWellDefined": "NP_937983.2:p.Trp581_Asp1132delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044492" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514104.1:c.213G>A" ], "proteinEffect": { "hgvs": "XP_011512406.1:p.Trp71Ter", "hgvsWellDefined": "XP_011512406.1:p.Trp71_Asp622delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081329" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514105.1:c.99G>A" ], "proteinEffect": { "hgvs": "XP_011512407.1:p.Trp33Ter", "hgvsWellDefined": "XP_011512407.1:p.Trp33_Asp584delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081330" }, { "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514106.1:c.99G>A" ], "proteinEffect": { "hgvs": "XP_011512408.1:p.Trp33Ter", "hgvsWellDefined": "XP_011512408.1:p.Trp33_Asp584delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081331" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.1:n.1801G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531604" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.1:n.1801G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531605" }, { "@id": "http://reg.genome.network/allele/PA2826182229", "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.2:c.1743G>A" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Trp581Ter", "hgvsWellDefined": "NP_001180305.1:p.Trp581_Asp1069delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679210" }, { "@id": "http://reg.genome.network/allele/PA1139766005", "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_198253.3:c.1743G>A" ], "proteinEffect": { "hgvs": "NP_937983.2:p.Trp581Ter", "hgvsWellDefined": "NP_937983.2:p.Trp581_Asp1132delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701294", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310581.10:c.1743G>A" }, "RefSeq": { "hgvs": "NM_198253.3:c.1743G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309572.5:p.Trp581Ter" }, "RefSeq": { "hgvs": "NP_937983.2:p.Trp581Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.2:n.1822G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704931" }, { "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.2:n.1822G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704932" }, { "@id": "http://reg.genome.network/allele/PA2826182229", "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.3:c.1743G>A" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Trp581Ter", "hgvsWellDefined": "NP_001180305.1:p.Trp581_Asp1069delinsSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713737" }, { "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.3:n.1822G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731515" }, { "coordinates": [ { "allele": "A", "end": 1822, "referenceAllele": "G", "start": 1821 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.3:n.1822G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731516" } ], "type": "nucleotide" }