{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382516057", "communityStandardTitle": [ "NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1315813", "active": true, "id": "COSM1315813" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=639477[alleleid]", "alleleId": 639477, "preferredName": "NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665551", "RCV": [ "RCV000823859", "RCV003128162", "RCV004029164" ], "variationId": 665551 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108143545C>T?assembly=hg19", "id": "chr11:g.108143545C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108272818C>T?assembly=hg38", "id": "chr11:g.108272818C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1386063673", "rs": 1386063673 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 108272818, "referenceAllele": "C", "start": 108272817 } ], "hgvs": [ "NC_000011.10:g.108272818C>T", "CM000673.2:g.108272818C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 108143545, "referenceAllele": "C", "start": 108143544 } ], "hgvs": [ "NC_000011.9:g.108143545C>T", "CM000673.1:g.108143545C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 107648755, "referenceAllele": "C", "start": 107648754 } ], "hgvs": [ "NC_000011.8:g.107648755C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 54987, "referenceAllele": "C", "start": 54986 } ], "hgvs": [ "NG_009830.1:g.54987C>T", "LRG_135:g.54987C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3732, "referenceAllele": "C", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.7:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914087" }, { "coordinates": [ { "allele": "T", "end": 3378, "referenceAllele": "C", "start": 3377 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000713593.1:c.*2721C>T" ], "proteinEffect": { "hgvs": "ENSP00000518889.1:n.*2721C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914869" }, { "coordinates": [ { "allele": "T", "end": 3556, "referenceAllele": "C", "start": 3555 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.9:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS823676" }, { "coordinates": [ { "allele": "T", "end": 3400, "referenceAllele": "C", "start": 3399 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000683174.1:n.3400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828158" }, { "coordinates": [ { "allele": "T", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000527805.6:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000435747.2:p.Gln1084Ter", "hgvsWellDefined": "ENSP00000435747.2:p.Gln1084_Trp1545delinsValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnIleIleArgLysMetGlyLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759050" }, { "coordinates": [ { "allele": "T", "end": 3217, "referenceAllele": "C", "start": 3216 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675595.1:c.3085C>T" ], "proteinEffect": { "hgvs": "ENSP00000502563.1:p.Gln1029Ter", "hgvsWellDefined": "ENSP00000502563.1:p.Gln1029_Trp1545delinsValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluIleIleArgLysMetGlyLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775391" }, { "coordinates": [ { "allele": "T", "end": 3400, "referenceAllele": "C", "start": 3399 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675843.1:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000501606.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775610", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.3250C>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.3250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Gln1084Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Gln1084Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3635, "referenceAllele": "C", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.8:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS252814" }, { "coordinates": [ { "allele": "T", "end": 3439, "referenceAllele": "C", "start": 3438 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.6:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "C", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000527805.5:c.3250C>T" ], "proteinEffect": { "hgvs": "ENSP00000435747.1:p.Gln1084Ter", "hgvsWellDefined": "ENSP00000435747.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353439" }, { "coordinates": [ { "allele": "T", "end": 3635, "referenceAllele": "C", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.3:c.3250C>T", "LRG_135t1:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "T", "end": 3458, "referenceAllele": "C", "start": 3457 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "T", "end": 3767, "referenceAllele": "C", "start": 3766 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "T", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "T", "end": 3478, "referenceAllele": "C", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "T", "end": 4161, "referenceAllele": "C", "start": 4160 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "T", "end": 3205, "referenceAllele": "C", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.3085C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Gln1029Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "C", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "T", "end": 2751, "referenceAllele": "C", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.2206C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Gln736Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.1942C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Gln648Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "C", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542846.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541148.1:p.Gln1084Ter", "hgvsWellDefined": "XP_011541148.1:p.Gln1084_Ile1780delinsValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluGluIleAsnHisPheLeuSerValSerValTyrAspAlaLeuProLeuThrArgLeuGluGlyLeuLysAspLeuArgArgGlnLeuGluLeuHisLysAspGlnMetValAspIleMetArgAlaSerGlnAspAsnProGlnAspGlyIleMetValLysLeuValValAsnLeuLeuGlnLeuSerLysMetAlaIleAsnHisThrGlyGluLysGluValLeuGluAlaValGlySerCysLeuGlyGluValGlyProIleAspPheSerThrIleAlaIleGlnHisSerLysAspAlaSerTyrThrLysAlaLeuLysLeuPheGluAspLysGluLeuGlnTrpThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValPheArgSerThrGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109775" }, { "coordinates": [ { "allele": "T", "end": 3723, "referenceAllele": "C", "start": 3722 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "T", "end": 3769, "referenceAllele": "C", "start": 3768 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "T", "end": 3402, "referenceAllele": "C", "start": 3401 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "T", "end": 3490, "referenceAllele": "C", "start": 3489 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "T", "end": 3465, "referenceAllele": "C", "start": 3464 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.3085C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Gln1029Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "C", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "T", "end": 3586, "referenceAllele": "C", "start": 3585 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.2206C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Gln736Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "T", "end": 2098, "referenceAllele": "C", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.1942C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Gln648Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "T", "end": 4193, "referenceAllele": "C", "start": 4192 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "T", "end": 3590, "referenceAllele": "C", "start": 3589 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "C", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017791.1:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_016873280.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS569899" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "C", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017792.2:c.3250C>T" ], "proteinEffect": { "hgvs": "XP_016873281.1:p.Gln1084Ter", "hgvsWellDefined": "XP_016873281.1:p.Gln1084_Ser1775delinsValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluGluIleAsnHisPheLeuSerValSerValTyrAspAlaLeuProLeuThrArgLeuGluGlyLeuLysAspLeuArgArgGlnLeuGluLeuHisLysAspGlnMetValAspIleMetArgAlaSerGlnAspAsnProGlnAspGlyIleMetValLysLeuValValAsnLeuLeuGlnLeuSerLysMetAlaIleAsnHisThrGlyGluLysGluValLeuGluAlaValGlySerCysLeuGlyGluValGlyProIleAspPheSerThrIleAlaIleGlnHisSerLysAspAlaSerTyrThrLysAlaLeuLysLeuPheGluAspLysGluLeuGlnTrpThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569900" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "C", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XR_002957150.1:n.3983C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603286" }, { "coordinates": [ { "allele": "T", "end": 3488, "referenceAllele": "C", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "coordinates": [ { "allele": "T", "end": 3400, "referenceAllele": "C", "start": 3399 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.3250C>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Gln1084Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.3250C>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.3250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Gln1084Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Gln1084Ter" } } } } ], "type": "nucleotide" }