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"NP_001119588.1:p.Tyr88_Cys209delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712180" }, { "@id": "http://reg.genome.network/allele/PA913199800", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.2:c.264T>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Tyr88Ter", "hgvsWellDefined": 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"NP_001263624.1:p.Tyr181_Ser307delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826561239", "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "T", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.543T>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Tyr181Ter", "hgvsWellDefined": "NP_001263625.1:p.Tyr181_Cys302delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826562144", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.183T>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Tyr61Ter", "hgvsWellDefined": "NP_001263626.1:p.Tyr61_Asp234delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "@id": "http://reg.genome.network/allele/PA2826563269", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.183T>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Tyr61Ter", "hgvsWellDefined": "NP_001263627.1:p.Tyr61_Cys182delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "@id": "http://reg.genome.network/allele/PA2826564139", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.183T>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Tyr61Ter", "hgvsWellDefined": "NP_001263628.1:p.Tyr61_Ser187delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "@id": "http://reg.genome.network/allele/PA2826565633", "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "T", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.543T>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Tyr181Ter", "hgvsWellDefined": "NP_001263689.1:p.Tyr181_Asp354delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826567150", "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.543T>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Tyr181Ter", "hgvsWellDefined": "NP_001263690.1:p.Tyr181_Asp354delinsGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }