{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10580959", "communityStandardTitle": [ "NM_000546.6(TP53):c.158G>A (p.Trp53Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=44760", "active": true, "id": "COSM44760" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=399760", "active": true, "id": "COSM399760" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=399761", "active": true, "id": "COSM399761" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3388235", "active": true, "id": "COSM3388235" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3388236", "active": true, "id": "COSM3388236" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=236511[alleleid]", "alleleId": 236511, "preferredName": "NM_000546.6(TP53):c.158G>A (p.Trp53Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230285", "RCV": [ "RCV000222677", "RCV000693351", "RCV000785314", "RCV002288852", "RCV003475007" ], "variationId": 230285 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7579529C>T?assembly=hg19", "id": "chr17:g.7579529C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7676211C>T?assembly=hg38", "id": "chr17:g.7676211C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876658483", "rs": 876658483 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7676211-C-T?dataset=gnomad_r4", "id": "17-7676211-C-T", "variant": "17:7676211 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7676211, "referenceAllele": "C", "start": 7676210 } ], "hgvs": [ "NC_000017.11:g.7676211C>T", "CM000679.2:g.7676211C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7579529, "referenceAllele": "C", "start": 7579528 } ], "hgvs": [ "NC_000017.10:g.7579529C>T", "CM000679.1:g.7579529C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7520254, "referenceAllele": "C", "start": 7520253 } ], "hgvs": [ "NC_000017.9:g.7520254C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 16340, "referenceAllele": "G", "start": 16339 } ], "hgvs": [ "NG_017013.2:g.16340G>A", "LRG_321:g.16340G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Trp53Ter", "hgvsWellDefined": "ENSP00000426252.2:p.Trp53_Asp393delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Trp53Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "A", "end": 111, "endIntronDirection": "-", "endIntronOffset": 974, "referenceAllele": "G", "start": 111, "startIntronDirection": "-", "startIntronOffset": 975 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.-21-975G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:n.-21-975G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "A", "end": 175, "endIntronDirection": "+", "endIntronOffset": 171, "referenceAllele": "G", "start": 175, "startIntronDirection": "+", "startIntronOffset": 170 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.96+171G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:n.96+171G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Trp53Ter", "hgvsWellDefined": "ENSP00000473895.2:p.Trp53_Asp386delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Trp53Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.158G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.158G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Trp53Ter" }, "RefSeq": { "hgvs": "NP_000537.3:p.Trp53Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Trp53Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Trp53Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:p.Trp53Ter", "hgvsWellDefined": "ENSP00000410739.2:p.Trp53_Tyr285delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerArgProArgGlnValAspHisLeuArgSerGlyValGlnAspSerLeuAlaAsnIleAlaLysSerHisLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Trp53Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Trp53Ter", "hgvsWellDefined": "ENSP00000398846.2:p.Trp53_Ser346delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.1:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000426252.1:p.Trp53Ter", "hgvsWellDefined": "ENSP00000426252.1:p.Trp53_Pro128del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247405" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000505014.5:n.414G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336915" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.5:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.1:p.Trp53Ter", "hgvsWellDefined": "ENSP00000424104.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247237" }, { "coordinates": [ { "allele": "A", "end": 111, "endIntronDirection": "-", "endIntronOffset": 974, "referenceAllele": "G", "start": 111, "startIntronDirection": "-", "startIntronOffset": 975 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.-21-975G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:n.-21-975G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "A", "end": 175, "endIntronDirection": "+", "endIntronOffset": 171, "referenceAllele": "G", "start": 175, "startIntronDirection": "+", "startIntronOffset": 170 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.5:c.96+171G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.1:n.96+171G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247340" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.5:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000473895.1:p.Trp53Ter", "hgvsWellDefined": "ENSP00000473895.1:p.Trp53_Thr143del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247300" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000478219.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000480868.1:p.Trp14_Ser307delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Trp53Ter", "hgvsWellDefined": "ENSP00000482903.1:p.Trp53_Asp382delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuSerCysLysTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.158G>A" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Trp53Ter", "hgvsWellDefined": "ENSP00000482258.1:p.Trp53_Cys341delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "G", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000482537.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000481638.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000482222.1:p.Trp14_Cys302delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Trp14Ter", "hgvsWellDefined": "ENSP00000488924.1:p.Trp14_Ile410delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerArgGluCysGlnThrLeuSerProGlyAspProAspProProLeuSerGluThrPheAsnLeuAsnIleCysProTyrProAlaGlyLysLeuGluLeuLeuLysLeuSerProCysProCysLeuCysArgGlnValThrLeuMetSerPheLeuPhePhePheLeuIlePhePheTyrPheArgLeuTyrTrpGlyIleIleAspProProLysLeuHisThrPheLysValCysSerValMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA168998", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.158G>A", "LRG_321t1:c.158G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Trp53Ter", "hgvsWellDefined": "NP_000537.3:p.Trp53_Asp393delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA168999", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.158G>A", "LRG_321t2:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119584.1:p.Trp53_Asp393delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "@id": "http://reg.genome.network/allele/PA169004", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.158G>A", "LRG_321t4:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119585.1:p.Trp53_Ser346delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA169003", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.158G>A", "LRG_321t3:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119586.1:p.Trp53_Cys341delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA169002", "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "G", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.41G>A", "LRG_321t8:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Trp14Ter", "hgvsWellDefined": "NP_001119590.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826558963", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263624.1:p.Trp14_Ser307delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826560422", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263625.1:p.Trp14_Cys302delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826564813", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263689.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826566468", "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263690.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826558963", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263624.1:p.Trp14_Ser307delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826560422", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263625.1:p.Trp14_Cys302delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "@id": "http://reg.genome.network/allele/PA2826564813", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263689.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "@id": "http://reg.genome.network/allele/PA2826566468", "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263690.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA168998", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.158G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Trp53Ter", "hgvsWellDefined": "NP_000537.3:p.Trp53_Asp393delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.158G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.158G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Trp53Ter" }, "RefSeq": { "hgvs": "NP_000537.3:p.Trp53Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA168999", "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119584.1:p.Trp53_Asp393delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA169004", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119585.1:p.Trp53_Ser346delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA169003", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.158G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Trp53Ter", "hgvsWellDefined": "NP_001119586.1:p.Trp53_Cys341delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA169002", "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Trp14Ter", "hgvsWellDefined": "NP_001119590.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826558963", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263624.1:p.Trp14_Ser307delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826560422", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263625.1:p.Trp14_Cys302delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826564813", "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263689.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826566468", "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.41G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Trp14Ter", "hgvsWellDefined": "NP_001263690.1:p.Trp14_Asp354delinsPheThrGluAspProGlyProAspGluAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }