{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA359076394", "communityStandardTitle": [ "NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2107002[alleleid]", "alleleId": 2107002, "preferredName": "NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2047813", "RCV": [ "RCV002918325" ], "variationId": 2047813 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.1272359G>A?assembly=hg19", "id": "chr5:g.1272359G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.1272244G>A?assembly=hg38", "id": "chr5:g.1272244G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2478210028", "rs": 2478210028 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 1272244, "referenceAllele": "G", "start": 1272243 } ], "hgvs": [ "NC_000005.10:g.1272244G>A", "CM000667.2:g.1272244G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 1272359, "referenceAllele": "G", "start": 1272358 } ], "hgvs": [ "NC_000005.9:g.1272359G>A", "CM000667.1:g.1272359G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 1325359, "referenceAllele": "G", "start": 1325358 } ], "hgvs": [ "NC_000005.8:g.1325359G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 27804, "referenceAllele": "C", "start": 27803 } ], "hgvs": [ "NG_009265.1:g.27804C>T", "LRG_343:g.27804C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001529" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000310581.10:c.2323C>T" ], "proteinEffect": { "hgvs": "ENSP00000309572.5:p.Gln775Ter", "hgvsWellDefined": "ENSP00000309572.5:p.Gln775_Asp1132delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745648", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310581.10:c.2323C>T" }, "RefSeq": { "hgvs": "NM_198253.3:c.2323C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309572.5:p.Gln775Ter" }, "RefSeq": { "hgvs": "NP_937983.2:p.Gln775Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3652, "referenceAllele": "C", "start": 3651 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000656021.1:c.*1869C>T" ], "proteinEffect": { "hgvs": "ENSP00000499759.1:n.*1869C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772520" }, { "coordinates": [ { "allele": "T", "end": 2381, "referenceAllele": "C", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000310581.9:c.2323C>T" ], "proteinEffect": { "hgvs": "ENSP00000309572.5:p.Gln775Ter", "hgvsWellDefined": "ENSP00000309572.5:p.Gln775_Asp1132delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256389" }, { "coordinates": [ { "allele": "T", "end": 2323, "referenceAllele": "C", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000334602.10:c.2323C>T" ], "proteinEffect": { "hgvs": "ENSP00000334346.6:p.Gln775Ter", "hgvsWellDefined": "ENSP00000334346.6:p.Gln775_Asp1069delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259958" }, { "coordinates": [ { "allele": "T", "end": 2250, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2250, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000460137.6:c.2251-3611C>T" ], "proteinEffect": { "hgvs": "ENSP00000425003.1:n.2251-3611C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS304942" }, { "coordinates": [ { "allele": "T", "end": 1099, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 1099, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000484238.6:n.1100-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323535" }, { "coordinates": [ { "allele": "T", "end": 2286, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2286, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "ENST00000508104.2:c.2287-3611C>T" ], "proteinEffect": { "hgvs": "ENSP00000426042.2:n.2287-3611C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339212" }, { "@id": "http://reg.genome.network/allele/PA2826182597", "coordinates": [ { "allele": "T", "end": 2381, "referenceAllele": "C", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.1:c.2323C>T" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Gln775Ter", "hgvsWellDefined": "NP_001180305.1:p.Gln775_Asp1069delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016377" }, { "@id": "http://reg.genome.network/allele/PA2580557124", "coordinates": [ { "allele": "T", "end": 2381, "referenceAllele": "C", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_198253.2:c.2323C>T", "LRG_343t1:c.2323C>T" ], "proteinEffect": { "hgvs": "NP_937983.2:p.Gln775Ter", "hgvsWellDefined": "NP_937983.2:p.Gln775_Asp1132delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044492" }, { "coordinates": [ { "allele": "T", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514104.1:c.793C>T" ], "proteinEffect": { "hgvs": "XP_011512406.1:p.Gln265Ter", "hgvsWellDefined": "XP_011512406.1:p.Gln265_Asp622delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081329" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514105.1:c.679C>T" ], "proteinEffect": { "hgvs": "XP_011512407.1:p.Gln227Ter", "hgvsWellDefined": "XP_011512407.1:p.Gln227_Asp584delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081330" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "XM_011514106.1:c.679C>T" ], "proteinEffect": { "hgvs": "XP_011512408.1:p.Gln227Ter", "hgvsWellDefined": "XP_011512408.1:p.Gln227_Asp584delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081331" }, { "coordinates": [ { "allele": "T", "end": 2344, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2344, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.1:n.2345-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531604" }, { "coordinates": [ { "allele": "T", "end": 2308, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2308, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.1:n.2309-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531605" }, { "@id": "http://reg.genome.network/allele/PA2826182597", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.2:c.2323C>T" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Gln775Ter", "hgvsWellDefined": "NP_001180305.1:p.Gln775_Asp1069delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679210" }, { "@id": "http://reg.genome.network/allele/PA2580557124", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_198253.3:c.2323C>T" ], "proteinEffect": { "hgvs": "NP_937983.2:p.Gln775Ter", "hgvsWellDefined": "NP_937983.2:p.Gln775_Asp1132delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701294", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310581.10:c.2323C>T" }, "RefSeq": { "hgvs": "NM_198253.3:c.2323C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309572.5:p.Gln775Ter" }, "RefSeq": { "hgvs": "NP_937983.2:p.Gln775Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2365, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2365, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.2:n.2366-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704931" }, { "coordinates": [ { "allele": "T", "end": 2329, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2329, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.2:n.2330-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704932" }, { "@id": "http://reg.genome.network/allele/PA2826182597", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "C", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NM_001193376.3:c.2323C>T" ], "proteinEffect": { "hgvs": "NP_001180305.1:p.Gln775Ter", "hgvsWellDefined": "NP_001180305.1:p.Gln775_Asp1069delinsPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713737" }, { "coordinates": [ { "allele": "T", "end": 2365, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2365, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149162.3:n.2366-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731515" }, { "coordinates": [ { "allele": "T", "end": 2329, "endIntronDirection": "-", "endIntronOffset": 3610, "referenceAllele": "C", "start": 2329, "startIntronDirection": "-", "startIntronOffset": 3611 } ], "gene": "http://reg.genome.network/gene/GN011730", "geneNCBI_id": 7015, "geneSymbol": "TERT", "hgvs": [ "NR_149163.3:n.2330-3611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731516" } ], "type": "nucleotide" }