{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA286987", "communityStandardTitle": [ "NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1351002", "active": true, "id": "COSM1351002" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1351003", "active": true, "id": "COSM1351003" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132902[alleleid]", "alleleId": 132902, "preferredName": "NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127445", "RCV": [ "RCV000115251", "RCV000212068", "RCV000462583", "RCV001814060", "RCV003467032", "RCV003162535" ], "variationId": 127445 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108201089C>T?assembly=hg19", "id": "chr11:g.108201089C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108330362C>T?assembly=hg38", "id": "chr11:g.108330362C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587779865", "rs": 587779865 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-108201089-C-T?dataset=gnomad_r2_1", "id": "11-108201089-C-T", "variant": "11:108201089 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-108330362-C-T?dataset=gnomad_r4", "id": "11-108330362-C-T", "variant": "11:108330362 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 108330362, "referenceAllele": "C", "start": 108330361 } ], "hgvs": [ "NC_000011.10:g.108330362C>T", "CM000673.2:g.108330362C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 108201089, "referenceAllele": "C", "start": 108201088 } ], "hgvs": [ "NC_000011.9:g.108201089C>T", "CM000673.1:g.108201089C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 107706299, "referenceAllele": "C", "start": 107706298 } ], "hgvs": [ "NC_000011.8:g.107706299C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 112531, "referenceAllele": "C", "start": 112530 } ], "hgvs": [ "NG_009830.1:g.112531C>T", "LRG_135:g.112531C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001667" }, { "coordinates": [ { "allele": "A", "end": 144471, "referenceAllele": "G", "start": 144470 } ], "hgvs": [ "NG_054724.1:g.144471G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617495" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7938, "referenceAllele": "C", "start": 7937 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.7:c.7456C>T" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Arg2486Ter", "hgvsWellDefined": "ENSP00000388058.2:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914087" }, { "coordinates": [ { "allele": "T", "end": 7584, "referenceAllele": "C", "start": 7583 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000713593.1:c.*6927C>T" ], "proteinEffect": { "hgvs": "ENSP00000518889.1:n.*6927C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914869" }, { "coordinates": [ { "allele": "T", "end": 7762, "referenceAllele": "C", "start": 7761 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.9:c.7456C>T" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Arg2486Ter", "hgvsWellDefined": "ENSP00000278616.4:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823676" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000525056.2:n.1875C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825701" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000525537.3:n.413C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825706" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000638786.2:n.293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826682" }, { "coordinates": [ { "allele": "T", "end": 2213, "referenceAllele": "C", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000682286.1:n.2213C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827281" }, { "coordinates": [ { "allele": "T", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000682302.1:n.1874C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827296" }, { "coordinates": [ { "allele": "T", "end": 8940, "referenceAllele": "C", "start": 8939 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000683174.1:n.8940C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828158" }, { "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "C", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000683524.1:n.2680C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828498" }, { "coordinates": [ { "allele": "T", "end": 3170, "referenceAllele": "C", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000684152.1:n.3170C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829110" }, { "coordinates": [ { "allele": "T", "end": 1919, "referenceAllele": "C", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000684447.1:n.1919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829401" }, { "coordinates": [ { "allele": "T", "end": 7307, "referenceAllele": "C", "start": 7306 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000527805.6:c.*2520C>T" ], "proteinEffect": { "hgvs": "ENSP00000435747.2:n.*2520C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759050" }, { "coordinates": [ { "allele": "T", "end": 7361, "referenceAllele": "C", "start": 7360 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675595.1:c.*2591C>T" ], "proteinEffect": { "hgvs": "ENSP00000502563.1:n.*2591C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775391" }, { "coordinates": [ { "allele": "T", "end": 7606, "referenceAllele": "C", "start": 7605 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675843.1:c.7456C>T" ], "proteinEffect": { "hgvs": "ENSP00000501606.1:p.Arg2486Ter", "hgvsWellDefined": "ENSP00000501606.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775610", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.7456C>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.7456C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Arg2486Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Arg2486Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7841, "referenceAllele": "C", "start": 7840 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.8:c.7456C>T" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Arg2486Ter", "hgvsWellDefined": "ENSP00000278616.4:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252814" }, { "coordinates": [ { "allele": "T", "end": 7645, "referenceAllele": "C", "start": 7644 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.6:c.7456C>T" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Arg2486Ter", "hgvsWellDefined": "ENSP00000388058.2:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "T", "end": 3671, "referenceAllele": "C", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.3671C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 21290, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 21291 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "ENST00000525729.5:c.641-21291G>A" ], "proteinEffect": { "hgvs": "ENSP00000433395.1:n.641-21291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351707" }, { "coordinates": [ { "allele": "T", "end": 2860, "referenceAllele": "C", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000533690.5:n.2860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358422" }, { "@id": "http://reg.genome.network/allele/PA286989", "coordinates": [ { "allele": "T", "end": 7841, "referenceAllele": "C", "start": 7840 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.3:c.7456C>T", "LRG_135t1:c.7456C>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Arg2486Ter", "hgvsWellDefined": "NP_000042.3:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "T", "end": 7664, "referenceAllele": "C", "start": 7663 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Arg2486Ter", "hgvsWellDefined": "XP_005271618.2:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "T", "end": 7973, "referenceAllele": "C", "start": 7972 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Arg2486Ter", "hgvsWellDefined": "XP_005271619.2:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "T", "end": 7596, "referenceAllele": "C", "start": 7595 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Arg2486Ter", "hgvsWellDefined": "XP_006718906.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "T", "end": 3481, "referenceAllele": "C", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.3412C>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Arg1138Ter", "hgvsWellDefined": "XP_006718908.1:p.Arg1138_Val1708delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "T", "end": 7684, "referenceAllele": "C", "start": 7683 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Arg2486Ter", "hgvsWellDefined": "XP_011541142.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "T", "end": 8367, "referenceAllele": "C", "start": 8366 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Arg2486Ter", "hgvsWellDefined": "XP_011541143.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "T", "end": 7411, "referenceAllele": "C", "start": 7410 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.7291C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Arg2431Ter", "hgvsWellDefined": "XP_011541144.1:p.Arg2431_Val3001delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "T", "end": 8173, "referenceAllele": "C", "start": 8172 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Arg2486Ter", "hgvsWellDefined": "XP_011541145.1:p.Arg2486_Ser2912delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "T", "end": 6957, "referenceAllele": "C", "start": 6956 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.6412C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Arg2138Ter", "hgvsWellDefined": "XP_011541146.1:p.Arg2138_Val2708delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "T", "end": 6304, "referenceAllele": "C", "start": 6303 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.6148C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Arg2050Ter", "hgvsWellDefined": "XP_011541147.1:p.Arg2050_Val2620delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "T", "end": 2567, "referenceAllele": "C", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.2527C>T" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Arg843Ter", "hgvsWellDefined": "XP_011541149.1:p.Arg843_Val1413delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 21290, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 21291 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.1:c.641-21291G>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-21291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS516750" }, { "coordinates": [ { "allele": "A", "end": 837, "endIntronDirection": "+", "endIntronOffset": 4858, "referenceAllele": "G", "start": 837, "startIntronDirection": "+", "startIntronOffset": 4857 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.1:c.*38+4858G>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+4858G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519918" }, { "@id": "http://reg.genome.network/allele/PA916034356", "coordinates": [ { "allele": "T", "end": 7929, "referenceAllele": "C", "start": 7928 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.7456C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Arg2486Ter", "hgvsWellDefined": "NP_001338763.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "T", "end": 7975, "referenceAllele": "C", "start": 7974 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Arg2486Ter", "hgvsWellDefined": "XP_005271619.2:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "T", "end": 7608, "referenceAllele": "C", "start": 7607 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Arg2486Ter", "hgvsWellDefined": "XP_006718906.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "T", "end": 3482, "referenceAllele": "C", "start": 3481 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.3412C>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Arg1138Ter", "hgvsWellDefined": "XP_006718908.1:p.Arg1138_Val1708delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "T", "end": 7696, "referenceAllele": "C", "start": 7695 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Arg2486Ter", "hgvsWellDefined": "XP_011541142.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "T", "end": 7671, "referenceAllele": "C", "start": 7670 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.7291C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Arg2431Ter", "hgvsWellDefined": "XP_011541144.1:p.Arg2431_Val3001delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "T", "end": 8189, "referenceAllele": "C", "start": 8188 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Arg2486Ter", "hgvsWellDefined": "XP_011541145.1:p.Arg2486_Ser2912delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "T", "end": 7792, "referenceAllele": "C", "start": 7791 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.6412C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Arg2138Ter", "hgvsWellDefined": "XP_011541146.1:p.Arg2138_Val2708delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "T", "end": 6304, "referenceAllele": "C", "start": 6303 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.6148C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Arg2050Ter", "hgvsWellDefined": "XP_011541147.1:p.Arg2050_Val2620delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "T", "end": 8399, "referenceAllele": "C", "start": 8398 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Arg2486Ter", "hgvsWellDefined": "XP_016873278.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "T", "end": 7796, "referenceAllele": "C", "start": 7795 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.7456C>T" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Arg2486Ter", "hgvsWellDefined": "XP_016873279.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "A", "end": 708, "endIntronDirection": "-", "endIntronOffset": 21290, "referenceAllele": "G", "start": 708, "startIntronDirection": "-", "startIntronOffset": 21291 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.2:c.641-21291G>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-21291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686900" }, { "coordinates": [ { "allele": "A", "end": 835, "endIntronDirection": "+", "endIntronOffset": 4858, "referenceAllele": "G", "start": 835, "startIntronDirection": "+", "startIntronOffset": 4857 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.2:c.*38+4858G>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+4858G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688648" }, { "@id": "http://reg.genome.network/allele/PA916034356", "coordinates": [ { "allele": "T", "end": 7694, "referenceAllele": "C", "start": 7693 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.7456C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Arg2486Ter", "hgvsWellDefined": "NP_001338763.1:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "@id": "http://reg.genome.network/allele/PA286989", "coordinates": [ { "allele": "T", "end": 7606, "referenceAllele": "C", "start": 7605 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.7456C>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Arg2486Ter", "hgvsWellDefined": "NP_000042.3:p.Arg2486_Val3056delinsLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.7456C>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.7456C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Arg2486Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Arg2486Ter" } } } } ], "type": "nucleotide" }