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}, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "A", "end": 3381, "referenceAllele": "C", "start": 3380 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.3381C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000525537.2:n.442C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS351545" }, { "coordinates": [ { "allele": "T", "end": 710, "endIntronDirection": "-", "endIntronOffset": 20025, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 20026 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "ENST00000525729.5:c.641-20026G>T" ], "proteinEffect": { "hgvs": "ENSP00000433395.1:n.641-20026G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS351707" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000527389.2:n.191C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353103" }, { "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000533690.5:n.2570C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358422" }, { "@id": "http://reg.genome.network/allele/PA645503782", "coordinates": [ { "allele": "A", "end": 7551, "referenceAllele": "C", "start": 7550 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.3:c.7166C>A", "LRG_135t1:c.7166C>A" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Ser2389Ter", "hgvsWellDefined": "NP_000042.3:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "A", "end": 7374, "referenceAllele": "C", "start": 7373 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Ser2389Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "A", "end": 7683, "referenceAllele": "C", "start": 7682 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Ser2389Ter", "hgvsWellDefined": "XP_005271619.2:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "A", "end": 7306, "referenceAllele": "C", "start": 7305 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Ser2389Ter", "hgvsWellDefined": "XP_006718906.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "A", "end": 3191, "referenceAllele": "C", "start": 3190 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.3122C>A" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Ser1041Ter", "hgvsWellDefined": "XP_006718908.1:p.Ser1041_Val1708delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "A", "end": 7394, "referenceAllele": "C", "start": 7393 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Ser2389Ter", "hgvsWellDefined": "XP_011541142.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "A", "end": 8077, "referenceAllele": "C", "start": 8076 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Ser2389Ter", "hgvsWellDefined": "XP_011541143.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "A", "end": 7121, "referenceAllele": "C", "start": 7120 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.7001C>A" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Ser2334Ter", "hgvsWellDefined": "XP_011541144.1:p.Ser2334_Val3001delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "A", "end": 7883, "referenceAllele": "C", "start": 7882 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Ser2389Ter", "hgvsWellDefined": "XP_011541145.1:p.Ser2389_Ser2912delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "A", "end": 6667, "referenceAllele": "C", "start": 6666 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.6122C>A" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Ser2041Ter", "hgvsWellDefined": "XP_011541146.1:p.Ser2041_Val2708delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "A", "end": 6014, "referenceAllele": "C", "start": 6013 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.5858C>A" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Ser1953Ter", "hgvsWellDefined": "XP_011541147.1:p.Ser1953_Val2620delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.2237C>A" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Ser746Ter", "hgvsWellDefined": "XP_011541149.1:p.Ser746_Val1413delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "T", "end": 710, "endIntronDirection": "-", "endIntronOffset": 20025, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 20026 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.1:c.641-20026G>T" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-20026G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS516750" }, { "coordinates": [ { "allele": "T", "end": 837, "endIntronDirection": "+", "endIntronOffset": 6123, "referenceAllele": "G", "start": 837, "startIntronDirection": "+", "startIntronOffset": 6122 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.1:c.*38+6123G>T" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6123G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519918" }, { "@id": "http://reg.genome.network/allele/PA916034222", "coordinates": [ { "allele": "A", "end": 7639, "referenceAllele": "C", "start": 7638 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.7166C>A" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Ser2389Ter", "hgvsWellDefined": "NP_001338763.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "A", "end": 7685, "referenceAllele": "C", "start": 7684 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Ser2389Ter", "hgvsWellDefined": "XP_005271619.2:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "A", "end": 7318, "referenceAllele": "C", "start": 7317 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Ser2389Ter", "hgvsWellDefined": "XP_006718906.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "A", "end": 3192, "referenceAllele": "C", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.3122C>A" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Ser1041Ter", "hgvsWellDefined": "XP_006718908.1:p.Ser1041_Val1708delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "A", "end": 7406, "referenceAllele": "C", "start": 7405 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Ser2389Ter", "hgvsWellDefined": "XP_011541142.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "A", "end": 7381, "referenceAllele": "C", "start": 7380 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.7001C>A" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Ser2334Ter", "hgvsWellDefined": "XP_011541144.1:p.Ser2334_Val3001delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "A", "end": 7899, "referenceAllele": "C", "start": 7898 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Ser2389Ter", "hgvsWellDefined": "XP_011541145.1:p.Ser2389_Ser2912delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "A", "end": 7502, "referenceAllele": "C", "start": 7501 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.6122C>A" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Ser2041Ter", "hgvsWellDefined": "XP_011541146.1:p.Ser2041_Val2708delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "A", "end": 6014, "referenceAllele": "C", "start": 6013 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.5858C>A" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Ser1953Ter", "hgvsWellDefined": "XP_011541147.1:p.Ser1953_Val2620delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "A", "end": 8109, "referenceAllele": "C", "start": 8108 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Ser2389Ter", "hgvsWellDefined": "XP_016873278.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "A", "end": 7506, "referenceAllele": "C", "start": 7505 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.7166C>A" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Ser2389Ter", "hgvsWellDefined": "XP_016873279.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "T", "end": 708, "endIntronDirection": "-", "endIntronOffset": 20025, "referenceAllele": "G", "start": 708, "startIntronDirection": "-", "startIntronOffset": 20026 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.2:c.641-20026G>T" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-20026G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS686900" }, { "coordinates": [ { "allele": "T", "end": 835, "endIntronDirection": "+", "endIntronOffset": 6123, "referenceAllele": "G", "start": 835, "startIntronDirection": "+", "startIntronOffset": 6122 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.2:c.*38+6123G>T" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6123G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688648" }, { "@id": "http://reg.genome.network/allele/PA916034222", "coordinates": [ { "allele": "A", "end": 7404, "referenceAllele": "C", "start": 7403 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.7166C>A" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Ser2389Ter", "hgvsWellDefined": "NP_001338763.1:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "@id": "http://reg.genome.network/allele/PA645503782", "coordinates": [ { "allele": "A", "end": 7316, "referenceAllele": "C", "start": 7315 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.7166C>A" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Ser2389Ter", "hgvsWellDefined": "NP_000042.3:p.Ser2389_Val3056delinsLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.7166C>A" }, "RefSeq": { "hgvs": "NM_000051.4:c.7166C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Ser2389Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Ser2389Ter" } } } } ], "type": "nucleotide" }