{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA891842267", "communityStandardTitle": [ "NM_000546.6(TP53):c.404_406delinsACT (p.Cys135TyrfsTer2)" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "AGT", "end": 7675208, "referenceAllele": "GGC", "start": 7675205 } ], "hgvs": [ "NC_000017.11:g.7675206_7675208delinsAGT", "CM000679.2:g.7675206_7675208delinsAGT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "AGT", "end": 7578526, "referenceAllele": "GGC", "start": 7578523 } ], "hgvs": [ "NC_000017.10:g.7578524_7578526delinsAGT", "CM000679.1:g.7578524_7578526delinsAGT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "AGT", "end": 7519251, "referenceAllele": "GGC", "start": 7519248 } ], "hgvs": [ "NC_000017.9:g.7519249_7519251delinsAGT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "ACT", "end": 17345, "referenceAllele": "GCC", "start": 17342 } ], "hgvs": [ "NG_017013.2:g.17343_17345delinsACT", "LRG_321:g.17343_17345delinsACT" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "ACT", "end": 588, "referenceAllele": "GCC", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000426252.2:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "ACT", "end": 688, "referenceAllele": "GCC", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000424104.2:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "ACT", "end": 142, "referenceAllele": "GCC", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:p.Cys3TyrfsTer2", "hgvsWellDefined": "ENSP00000425104.2:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys32_Asp261delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "ACT", "end": 206, "referenceAllele": "GCC", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.125_127delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:p.Cys42TyrfsTer2", "hgvsWellDefined": "ENSP00000423862.2:p.[Cys42_Ile69delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys71_Asp300delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "ACT", "end": 524, "referenceAllele": "GCC", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.383_385delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Cys128TyrfsTer2", "hgvsWellDefined": "ENSP00000473895.2:p.[Cys128_Ile155delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys157_Asp386delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000269305.4:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.404_406delinsACT" }, "RefSeq": { "hgvs": "NM_000546.6:c.404_406delinsACT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Cys135TyrfsTer2" }, "RefSeq": { "hgvs": "NP_000537.3:p.Cys135TyrfsTer2" } } } }, { "coordinates": [ { "allele": "ACT", "end": 596, "referenceAllele": "GCC", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000269305.4:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "ACT", "end": 406, "referenceAllele": "GCC", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000352610.4:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnLysThrPheProAlaArgHisGlyGlySerHisLeuTer;Lys164_Leu343delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnLysThrPheProAlaArgHisGlyGlySerHisLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247341" }, { "coordinates": [ { "allele": "ACT", "end": 406, "referenceAllele": "GCC", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000410739.2:p.Cys135_Leu284delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerArgProArgGlnValAspHisLeuArgSerGlyValGlnAspSerLeuAlaAsnIleAlaLysSerHisLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "ACT", "end": 539, "referenceAllele": "GCC", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000391127.2:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys164_Cys341delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247205" }, { "coordinates": [ { "allele": "ACT", "end": 542, "referenceAllele": "GCC", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000445888.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000391478.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000391478.2:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "ACT", "end": 539, "referenceAllele": "GCC", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000398846.2:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys164_Ser346delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504290.5:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000484409.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "ENSP00000484409.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys32_Ser214delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS336391" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504937.5:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000481179.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "ENSP00000481179.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys32_Asp261delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS336854" }, { "coordinates": [ { "allele": "ACT", "end": 662, "referenceAllele": "GCC", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000505014.5:n.660_662delinsACT" ], "referenceSequence": "http://reg.genome.network/refseq/RS336915" }, { "coordinates": [ { "allele": "ACT", "end": 544, "referenceAllele": "GCC", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.5:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000424104.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000424104.1:p.[Cys135_Ile162del;Lys164Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247237" }, { "coordinates": [ { "allele": "ACT", "end": 142, "referenceAllele": "GCC", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "ENSP00000425104.1:p.[Cys3_Ile30del;Lys32_Gln199del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000510385.5:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000478499.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "ENSP00000478499.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys32_Cys209delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS340909" }, { "coordinates": [ { "allele": "ACT", "end": 206, "referenceAllele": "GCC", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.5:c.125_127delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000423862.1:p.Cys42TyrfsTer2", "hgvsWellDefined": "ENSP00000423862.1:p.[Cys42_Ile69del;Lys71Ter]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247340" }, { "coordinates": [ { "allele": "ACT", "end": 524, "referenceAllele": "GCC", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.5:c.383_385delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000473895.1:p.Cys128TyrfsTer2", "hgvsWellDefined": "ENSP00000473895.1:p.Cys128_Thr143delinsTyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247300" }, { "coordinates": [ { "allele": "ACT", "end": 656, "referenceAllele": "GCC", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000478219.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "ACT", "end": 539, "referenceAllele": "GCC", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000480868.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys125_Ser307delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610623.4:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000477531.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS400503" }, { "coordinates": [ { "allele": "ACT", "end": 373, "referenceAllele": "GCC", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.371_373delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Cys124TyrfsTer2", "hgvsWellDefined": "ENSP00000482903.1:p.[Cys124_Ile151delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys153_Asp382delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "ENSP00000482258.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys164_Cys341delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000618944.4:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000481401.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS404162" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619186.4:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000484375.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS404266" }, { "coordinates": [ { "allele": "ACT", "end": 542, "referenceAllele": "GCC", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000482537.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "ACT", "end": 596, "referenceAllele": "GCC", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000481638.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "ACT", "end": 539, "referenceAllele": "GCC", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000482222.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys125_Cys302delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "ACT", "end": 549, "referenceAllele": "GCC", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "ENSP00000488924.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerArgGluCysGlnThrLeuSerProGlyAspProAspProProLeuSerGluThrPheAsnLeuAsnIleCysProTyrProAlaGlyLysLeuGluLeuLeuLysLeuSerProCysProCysLeuCysArgGlnValThrLeuMetSerPheLeuPhePhePheLeuIlePhePheTyrPheArgLeuTyrTrpGlyIleIleAspProProLysLeuHisThrPheLysValCysSerValMetIleTer;Lys125_Ile410delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerArgGluCysGlnThrLeuSerProGlyAspProAspProProLeuSerGluThrPheAsnLeuAsnIleCysProTyrProAlaGlyLysLeuGluLeuLeuLysLeuSerProCysProCysLeuCysArgGlnValThrLeuMetSerPheLeuPhePhePheLeuIlePhePheTyrPheArgLeuTyrTrpGlyIleIleAspProProLysLeuHisThrPheLysValCysSerValMetIleTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.404_406delinsACT", "LRG_321t1:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_000537.3:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "coordinates": [ { "allele": "ACT", "end": 605, "referenceAllele": "GCC", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.404_406delinsACT", "LRG_321t2:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119584.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.404_406delinsACT", "LRG_321t4:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119585.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys164_Ser346delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.404_406delinsACT", "LRG_321t3:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119586.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys164_Cys341delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.1:c.8_10delinsACT", "LRG_321t5:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119587.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys32_Asp261delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011493" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.1:c.8_10delinsACT", "LRG_321t6:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119588.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys32_Cys209delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011494" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.1:c.8_10delinsACT", "LRG_321t7:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119589.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys32_Ser214delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011495" }, { "coordinates": [ { "allele": "ACT", "end": 725, "referenceAllele": "GCC", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.287_289delinsACT", "LRG_321t8:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001119590.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263624.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys125_Ser307delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263625.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys125_Cys302delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.1:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263626.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS020929" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.1:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263627.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS020930" }, { "coordinates": [ { "allele": "ACT", "end": 288, "referenceAllele": "GCC", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.1:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263628.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS020931" }, { "coordinates": [ { "allele": "ACT", "end": 608, "referenceAllele": "GCC", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263689.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "coordinates": [ { "allele": "ACT", "end": 605, "referenceAllele": "GCC", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263690.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263624.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys125_Ser307delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263625.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys125_Cys302delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.2:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263626.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS681333" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.2:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263627.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS681334" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.2:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263628.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS681335" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263689.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "coordinates": [ { "allele": "ACT", "end": 545, "referenceAllele": "GCC", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263690.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_000537.3:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.404_406delinsACT" }, "RefSeq": { "hgvs": "NM_000546.6:c.404_406delinsACT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Cys135TyrfsTer2" }, "RefSeq": { "hgvs": "NP_000537.3:p.Cys135TyrfsTer2" } } } }, { "coordinates": [ { "allele": "ACT", "end": 545, "referenceAllele": "GCC", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119584.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys164_Asp393delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119585.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys164_Ser346delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.404_406delinsACT" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Cys135TyrfsTer2", "hgvsWellDefined": "NP_001119586.1:p.[Cys135_Ile162delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys164_Cys341delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.2:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119587.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys32_Asp261delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712179" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.2:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119588.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys32_Cys209delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712180" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.2:c.8_10delinsACT" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Cys3TyrfsTer2", "hgvsWellDefined": "NP_001119589.1:p.[Cys3_Ile30delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys32_Ser214delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712181" }, { "coordinates": [ { "allele": "ACT", "end": 665, "referenceAllele": "GCC", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001119590.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263624.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer;Lys125_Ser307delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263625.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer;Lys125_Cys302delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263626.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263627.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "coordinates": [ { "allele": "ACT", "end": 39, "referenceAllele": "GCC", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.-74_-72delinsACT" ], "proteinEffect": { "hgvs": "NP_001263628.1:n.-74_-72delinsACT" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "coordinates": [ { "allele": "ACT", "end": 548, "referenceAllele": "GCC", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263689.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "coordinates": [ { "allele": "ACT", "end": 545, "referenceAllele": "GCC", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.287_289delinsACT" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Cys96TyrfsTer2", "hgvsWellDefined": "NP_001263690.1:p.[Cys96_Ile123delinsGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer;Lys125_Asp354delinsGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }