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"referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "T", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.337T>A" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Cys113Ser", "hgvsWellDefined": "ENSP00000482903.1:p.Cys113Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.341T>A" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Leu114Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "T", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.224T>A" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Leu75Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA2579936770", "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.341T>A", "LRG_321t1:c.341T>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Leu114Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2825599282", "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.341T>A", "LRG_321t2:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Leu114Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2825603308", "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.341T>A", "LRG_321t4:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Leu114Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.341T>A", "LRG_321t3:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Leu114Ter", "hgvsWellDefined": "NP_001119586.1:p.Leu114_Cys341delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": 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"NP_001119590.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826559211", "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Leu75Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263625.1:p.Leu75_Cys302delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826565059", "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263689.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA916006606", "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Leu75Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2826559211", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Leu75Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263625.1:p.Leu75_Cys302delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { 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"http://reg.genome.network/allele/PA916006606", "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "T", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263690.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA2579936770", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.341T>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Leu114Ter", "hgvsWellDefined": 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Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.341T>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.341T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Leu114Ter" }, "RefSeq": { "hgvs": "NP_000537.3:p.Leu114Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825599282", "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "T", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Leu114Ter", "hgvsWellDefined": "NP_001119584.1:p.Leu114_Asp393delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA2825603308", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Leu114Ter", "hgvsWellDefined": "NP_001119585.1:p.Leu114_Ser346delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA2825606824", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.341T>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Leu114Ter", "hgvsWellDefined": "NP_001119586.1:p.Leu114_Cys341delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA913199818", "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "T", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Leu75Ter", "hgvsWellDefined": "NP_001119590.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826559211", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263624.1:p.Leu75_Ser307delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826560669", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263625.1:p.Leu75_Cys302delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826565059", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263689.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA916006606", "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "T", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.224T>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Leu75Ter", "hgvsWellDefined": "NP_001263690.1:p.Leu75_Asp354delinsHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }