UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7674161_7674237dup | CA913190585 | TP53 | c.727_782+21dup c.331_386+21dup c.448_503+21dup c.706_761+21dup c.610_665+21dup c.250_305+21dup c.694_749+21dup | ClinVar dbSNP |
| 17 | g.7674204_7674225del | CA645588513 | TP53 | c.738_759del (p.Met246IlefsTer?) c.342_363del (p.Met114IlefsTer?) c.459_480del (p.Met153IlefsTer?) c.717_738del (p.Met239IlefsTer?) c.738_759del (p.Met246IlefsTer16) c.621_642del (p.Met207IlefsTer?) c.261_282del (p.Met87IlefsTer?) c.705_726del (p.Met235IlefsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674210_7674287dup | CA2697552064 | TP53 | c.676_753dup (p.Ile251_Leu252insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.280_357dup (p.Ile119_Leu120insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.397_474dup (p.Ile158_Leu159insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.655_732dup (p.Ile244_Leu245insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.559_636dup (p.Ile212_Leu213insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.199_276dup (p.Ile92_Leu93insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.643_720dup (p.Ile240_Leu241insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) | ClinVar |
| 17 | g.7674214_7674228del | CA645588527 | TP53 | c.738_752del (p.Met246_Pro250del) c.342_356del (p.Met114_Pro118del) c.459_473del (p.Met153_Pro157del) c.717_731del (p.Met239_Pro243del) c.621_635del (p.Met207_Pro211del) c.261_275del (p.Met87_Pro91del) c.705_719del (p.Met235_Pro239del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674214_7674237del | CA891842241 | TP53 | c.729_752del (p.Met243_Pro250del) c.333_356del (p.Met111_Pro118del) c.450_473del (p.Met150_Pro157del) c.708_731del (p.Met236_Pro243del) c.612_635del (p.Met204_Pro211del) c.252_275del (p.Met84_Pro91del) c.696_719del (p.Met232_Pro239del) | |
| 17 | g.7674213_7674224del | CA645588530 | TP53 | c.740_751del (p.Asn247_Pro250del) c.344_355del (p.Asn115_Pro118del) c.461_472del (p.Asn154_Pro157del) c.719_730del (p.Asn240_Pro243del) c.623_634del (p.Asn208_Pro211del) c.263_274del (p.Asn88_Pro91del) c.707_718del (p.Asn236_Pro239del) | COSMIC |
| 17 | g.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
| 17 | g.7674215_7674225del | CA2695202152 | TP53 | c.738_748del (p.Met246IlefsTer14) c.342_352del (p.Met114IlefsTer14) c.459_469del (p.Met153IlefsTer14) c.717_727del (p.Met239IlefsTer14) c.738_748del (p.Met246IlefsTer?) c.621_631del (p.Met207IlefsTer14) c.261_271del (p.Met87IlefsTer14) c.705_715del (p.Met235IlefsTer14) | |
| 17 | g.7674216_7674225del | CA2580094870 | TP53 | c.738_747del (p.Met246IlefsTer?) c.342_351del (p.Met114IlefsTer?) c.459_468del (p.Met153IlefsTer?) c.717_726del (p.Met239IlefsTer?) c.738_747del (p.Met246IlefsTer20) c.621_630del (p.Met207IlefsTer?) c.261_270del (p.Met87IlefsTer?) c.705_714del (p.Met235IlefsTer?) | ClinVar |
| 17 | g.7674217_7674225del | CA645588541 | TP53 | c.739_747del (p.Asn247_Arg249del) c.343_351del (p.Asn115_Arg117del) c.460_468del (p.Asn154_Arg156del) c.718_726del (p.Asn240_Arg242del) c.622_630del (p.Asn208_Arg210del) c.262_270del (p.Asn88_Arg90del) c.706_714del (p.Asn236_Arg238del) | COSMIC |
| 17 | g.7674217_7674234del | CA2635876308 | TP53 | c.730_747del (p.Gly244_Arg249del) c.334_351del (p.Gly112_Arg117del) c.451_468del (p.Gly151_Arg156del) c.709_726del (p.Gly237_Arg242del) c.613_630del (p.Gly205_Arg210del) c.253_270del (p.Gly85_Arg90del) c.697_714del (p.Gly233_Arg238del) | gnomAD v4 |
| 17 | g.7674220_7674225del | CA645588543 | TP53 | c.740_745del (p.Asn247_Arg248del) c.344_349del (p.Asn115_Arg116del) c.461_466del (p.Asn154_Arg155del) c.719_724del (p.Asn240_Arg241del) c.623_628del (p.Asn208_Arg209del) c.263_268del (p.Asn88_Arg89del) c.707_712del (p.Asn236_Arg237del) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7674219_7674227del | CA2499224967 | TP53 | c.737_745del (p.Met246_Arg248del) c.341_349del (p.Met114_Arg116del) c.458_466del (p.Met153_Arg155del) c.716_724del (p.Met239_Arg241del) c.620_628del (p.Met207_Arg209del) c.260_268del (p.Met87_Arg89del) c.704_712del (p.Met235_Arg237del) | ClinVar dbSNP |
| 17 | g.7674218_7674231del | CA645588544 | TP53 | c.732_745del (p.Gly245AlafsTer14) c.336_349del (p.Gly113AlafsTer14) c.453_466del (p.Gly152AlafsTer14) c.711_724del (p.Gly238AlafsTer14) c.732_745del (p.Gly245AlafsTer?) c.453_466del (p.Gly151=) c.615_628del (p.Gly206AlafsTer14) c.255_268del (p.Gly86AlafsTer14) c.699_712del (p.Gly234AlafsTer14) | COSMIC |
| 17 | g.7674218_7674233delinsTCCGGTTCATGCCGCC | CA2245951348 | TP53 | c.730_745delinsGGCGGCATGAACCGGA (p.Gly244=) c.334_349delinsGGCGGCATGAACCGGA (p.Gly112=) c.451_466delinsGGCGGCATGAACCGGA (p.Gly151=) c.709_724delinsGGCGGCATGAACCGGA (p.Gly237=) c.613_628delinsGGCGGCATGAACCGGA (p.Gly205=) c.253_268delinsGGCGGCATGAACCGGA (p.Gly85=) c.697_712delinsGGCGGCATGAACCGGA (p.Gly233=) | |
| 17 | g.7674220_7674234del | CA645369701 | TP53 | c.730_744del (p.Gly244_Arg248del) c.334_348del (p.Gly112_Arg116del) c.451_465del (p.Gly151_Arg155del) c.709_723del (p.Gly237_Arg241del) c.613_627del (p.Gly205_Arg209del) c.253_267del (p.Gly85_Arg89del) c.697_711del (p.Gly233_Arg237del) | ClinVar dbSNP |
| 17 | g.7674231_7674232insGAGGTTCATGGGCGGCGGTTCATGCCG | CA2580612889 | TP53 | c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg249ArgfsTer3) c.347_348insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg117ArgfsTer3) c.464_465insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg156ArgfsTer3) c.722_723insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg242ArgfsTer3) c.626_627insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg210ArgfsTer3) c.266_267insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg90ArgfsTer3) c.710_711insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg238ArgfsTer3) | ClinVar |
| 17 | g.7674221_7674245delinsGGTTCATGCCGCCCATGCAGGAACT | CA2245951429 | TP53 | c.718_742delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser240=) c.322_346delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser108=) c.439_463delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser147=) c.697_721delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser233=) c.601_625delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser201=) c.241_265delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser81=) c.685_709delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser229=) | |
| 17 | g.7674225_7674248del | CA000355 | TP53 | c.718_741del (p.Ser240_Asn247del) c.322_345del (p.Ser108_Asn115del) c.439_462del (p.Ser147_Asn154del) c.697_720del (p.Ser233_Asn240del) c.601_624del (p.Ser201_Asn208del) c.241_264del (p.Ser81_Asn88del) c.685_708del (p.Ser229_Asn236del) | ClinVar dbSNP |
| 17 | g.7674223_7674224delinsAA | CA645588557 | TP53 | c.739_740delinsTT (p.Asn247Phe) c.343_344delinsTT (p.Asn115Phe) c.460_461delinsTT (p.Asn154Phe) c.718_719delinsTT (p.Asn240Phe) c.622_623delinsTT (p.Asn208Phe) c.262_263delinsTT (p.Asn88Phe) c.706_707delinsTT (p.Asn236Phe) | COSMIC |
| 17 | g.7674224del | CA497717309 | TP53 | c.740del (p.Asn247ThrfsTer?) c.344del (p.Asn115ThrfsTer?) c.461del (p.Asn154ThrfsTer?) c.719del (p.Asn240ThrfsTer?) c.740del (p.Asn247ThrfsTer22) c.623del (p.Asn208ThrfsTer?) c.263del (p.Asn88ThrfsTer?) c.707del (p.Asn236ThrfsTer?) | COSMIC |
| 17 | g.7674223_7674225delinsAAA | CA2580094884 | TP53 | c.738_740delinsTTT (p.Met246_Asn247delinsIlePhe) c.342_344delinsTTT (p.Met114_Asn115delinsIlePhe) c.459_461delinsTTT (p.Met153_Asn154delinsIlePhe) c.717_719delinsTTT (p.Met239_Asn240delinsIlePhe) c.621_623delinsTTT (p.Met207_Asn208delinsIlePhe) c.261_263delinsTTT (p.Met87_Asn88delinsIlePhe) c.705_707delinsTTT (p.Met235_Asn236delinsIlePhe) | ClinVar |
| 17 | g.7674223_7674230del | CA645588558 | TP53 | c.733_740del (p.Gly245ProfsTer16) c.337_344del (p.Gly113ProfsTer16) c.454_461del (p.Gly152ProfsTer16) c.712_719del (p.Gly238ProfsTer16) c.733_740del (p.Gly245ProfsTer?) c.454_461del (p.Gly152ProfsTer?) c.616_623del (p.Gly206ProfsTer16) c.256_263del (p.Gly86ProfsTer16) c.700_707del (p.Gly234ProfsTer16) | COSMIC |
| 17 | g.7674223_7674232delinsTTCATGCCGC | CA2245951474 | TP53 | c.731_740delinsGCGGCATGAA (p.Gly244=) c.335_344delinsGCGGCATGAA (p.Gly112=) c.452_461delinsGCGGCATGAA (p.Gly151=) c.710_719delinsGCGGCATGAA (p.Gly237=) c.614_623delinsGCGGCATGAA (p.Gly205=) c.254_263delinsGCGGCATGAA (p.Gly85=) c.698_707delinsGCGGCATGAA (p.Gly233=) | |
| 17 | g.7674224T>A | CA397838979 | TP53 | c.739A>T (p.Asn247Tyr) c.343A>T (p.Asn115Tyr) c.460A>T (p.Asn154Tyr) c.718A>T (p.Asn240Tyr) c.622A>T (p.Asn208Tyr) c.262A>T (p.Asn88Tyr) c.706A>T (p.Asn236Tyr) | gnomAD v4 COSMIC |
| 17 | g.7674224T>C | CA397838982 | TP53 | c.739A>G (p.Asn247Asp) c.343A>G (p.Asn115Asp) c.460A>G (p.Asn154Asp) c.718A>G (p.Asn240Asp) c.622A>G (p.Asn208Asp) c.262A>G (p.Asn88Asp) c.706A>G (p.Asn236Asp) | dbSNP COSMIC |
| 17 | g.7674224T>G | CA397838985 | TP53 | c.739A>C (p.Asn247His) c.343A>C (p.Asn115His) c.460A>C (p.Asn154His) c.718A>C (p.Asn240His) c.622A>C (p.Asn208His) c.262A>C (p.Asn88His) c.706A>C (p.Asn236His) | dbSNP |
| 17 | g.7674224T= | CA2245951487 | TP53 | c.739A= (p.Asn247=) c.343A= (p.Asn115=) c.460A= (p.Asn154=) c.718A= (p.Asn240=) c.622A= (p.Asn208=) c.262A= (p.Asn88=) c.706A= (p.Asn236=) | |
| 17 | g.7674225_7674227dup | CA2739265547 | TP53 | c.737_739dup (p.Met246_Asn247insMet) c.341_343dup (p.Met114_Asn115insMet) c.458_460dup (p.Met153_Asn154insMet) c.716_718dup (p.Met239_Asn240insMet) c.620_622dup (p.Met207_Asn208insMet) c.260_262dup (p.Met87_Asn88insMet) c.704_706dup (p.Met235_Asn236insMet) | ClinVar |
| 17 | g.7674224_7674232del | CA981209706 | TP53 | c.731_739del (p.Gly244_Asn247delinsAsp) c.335_343del (p.Gly112_Asn115delinsAsp) c.452_460del (p.Gly151_Asn154delinsAsp) c.710_718del (p.Gly237_Asn240delinsAsp) c.614_622del (p.Gly205_Asn208delinsAsp) c.254_262del (p.Gly85_Asn88delinsAsp) c.698_706del (p.Gly233_Asn236delinsAsp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7674224_7674233delinsTCATGCCGCC | CA2245951482 | TP53 | c.730_739delinsGGCGGCATGA (p.Gly244=) c.334_343delinsGGCGGCATGA (p.Gly112=) c.451_460delinsGGCGGCATGA (p.Gly151=) c.709_718delinsGGCGGCATGA (p.Gly237=) c.613_622delinsGGCGGCATGA (p.Gly205=) c.253_262delinsGGCGGCATGA (p.Gly85=) c.697_706delinsGGCGGCATGA (p.Gly233=) | |
| 17 | g.7674225_7674236del | CA2739265548 | TP53 | c.728_739del (p.Met243_Met246del) c.332_343del (p.Met111_Met114del) c.449_460del (p.Met150_Met153del) c.707_718del (p.Met236_Met239del) c.611_622del (p.Met204_Met207del) c.251_262del (p.Met84_Met87del) c.695_706del (p.Met232_Met235del) | ClinVar |
| 17 | g.7674224_7674239del | CA645588559 | TP53 | c.724_739del (p.Cys242ThrfsTer?) c.328_343del (p.Cys110ThrfsTer?) c.445_460del (p.Cys149ThrfsTer?) c.703_718del (p.Cys235ThrfsTer?) c.724_739del (p.Cys242ThrfsTer22) c.607_622del (p.Cys203ThrfsTer?) c.247_262del (p.Cys83ThrfsTer?) c.691_706del (p.Cys231ThrfsTer?) | COSMIC |
| 17 | g.7674224_7674251delinsTCATGCCGCCCATGCAGGAACTGTTACA | CA2245951485 | TP53 | c.712_739delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys238=) c.316_343delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys106=) c.433_460delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys145=) c.691_718delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys231=) c.595_622delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys199=) c.235_262delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys79=) c.679_706delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys227=) | |
| 17 | g.7674225C>A | CA397838990 | TP53 | c.738G>T (p.Met246Ile) c.342G>T (p.Met114Ile) c.459G>T (p.Met153Ile) c.717G>T (p.Met239Ile) c.621G>T (p.Met207Ile) c.261G>T (p.Met87Ile) c.705G>T (p.Met235Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674225C= | CA2245951505 | TP53 | c.738G= (p.Met246=) c.342G= (p.Met114=) c.459G= (p.Met153=) c.717G= (p.Met239=) c.621G= (p.Met207=) c.261G= (p.Met87=) c.705G= (p.Met235=) | |
| 17 | g.7674225C>G | CA397838992 | TP53 | c.738G>C (p.Met246Ile) c.342G>C (p.Met114Ile) c.459G>C (p.Met153Ile) c.717G>C (p.Met239Ile) c.621G>C (p.Met207Ile) c.261G>C (p.Met87Ile) c.705G>C (p.Met235Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674225C>T | CA287487993 | TP53 | c.738G>A (p.Met246Ile) c.342G>A (p.Met114Ile) c.459G>A (p.Met153Ile) c.717G>A (p.Met239Ile) c.621G>A (p.Met207Ile) c.261G>A (p.Met87Ile) c.705G>A (p.Met235Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674226_7674233del | CA645588561 | TP53 | c.731_738del (p.Gly244GlufsTer17) c.335_342del (p.Gly112GlufsTer17) c.452_459del (p.Gly151GlufsTer17) c.710_717del (p.Gly237GlufsTer17) c.731_738del (p.Gly244GlufsTer?) c.452_459del (p.Gly151GlufsTer?) c.614_621del (p.Gly205GlufsTer17) c.254_261del (p.Gly85GlufsTer17) c.698_705del (p.Gly233GlufsTer17) | COSMIC |
| 17 | g.7674230_7674238dup | CA2573105824 | TP53 | c.730_738dup (p.Met246_Asn247insGlyGlyMet) c.334_342dup (p.Met114_Asn115insGlyGlyMet) c.451_459dup (p.Met153_Asn154insGlyGlyMet) c.709_717dup (p.Met239_Asn240insGlyGlyMet) c.613_621dup (p.Met207_Asn208insGlyGlyMet) c.253_261dup (p.Met87_Asn88insGlyGlyMet) c.697_705dup (p.Met235_Asn236insGlyGlyMet) | |
| 17 | g.7674230_7674238del | CA915949527 | TP53 | c.730_738del (p.Gly244_Met246del) c.334_342del (p.Gly112_Met114del) c.451_459del (p.Gly151_Met153del) c.709_717del (p.Gly237_Met239del) c.613_621del (p.Gly205_Met207del) c.253_261del (p.Gly85_Met87del) c.697_705del (p.Gly233_Met235del) | ClinVar dbSNP |
| 17 | g.7674229_7674255del | CA645588562 | TP53 | c.712_738del (p.Cys238_Met246del) c.316_342del (p.Cys106_Met114del) c.433_459del (p.Cys145_Met153del) c.691_717del (p.Cys231_Met239del) c.595_621del (p.Cys199_Met207del) c.235_261del (p.Cys79_Met87del) c.679_705del (p.Cys227_Met235del) | ClinVar dbSNP COSMIC |
| 17 | g.7674226A= | CA2245951521 | TP53 | c.737T= (p.Met246=) c.341T= (p.Met114=) c.458T= (p.Met153=) c.716T= (p.Met239=) c.620T= (p.Met207=) c.260T= (p.Met87=) c.704T= (p.Met235=) | |
| 17 | g.7674226A>C | CA000376 | TP53 | c.737T>G (p.Met246Arg) c.341T>G (p.Met114Arg) c.458T>G (p.Met153Arg) c.716T>G (p.Met239Arg) c.620T>G (p.Met207Arg) c.260T>G (p.Met87Arg) c.704T>G (p.Met235Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674226A>G | CA397838998 | TP53 | c.737T>C (p.Met246Thr) c.341T>C (p.Met114Thr) c.458T>C (p.Met153Thr) c.716T>C (p.Met239Thr) c.620T>C (p.Met207Thr) c.260T>C (p.Met87Thr) c.704T>C (p.Met235Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674226A>T | CA397839001 | TP53 | c.737T>A (p.Met246Lys) c.341T>A (p.Met114Lys) c.458T>A (p.Met153Lys) c.716T>A (p.Met239Lys) c.620T>A (p.Met207Lys) c.260T>A (p.Met87Lys) c.704T>A (p.Met235Lys) | ClinVar dbSNP COSMIC |
| 17 | g.7674226_7674247delinsATGCCGCCCATGCAGGAACTGT | CA2245951528 | TP53 | c.716_737delinsACAGTTCCTGCATGGGCGGCAT (p.Asn239=) c.320_341delinsACAGTTCCTGCATGGGCGGCAT (p.Asn107=) c.437_458delinsACAGTTCCTGCATGGGCGGCAT (p.Asn146=) c.695_716delinsACAGTTCCTGCATGGGCGGCAT (p.Asn232=) c.599_620delinsACAGTTCCTGCATGGGCGGCAT (p.Asn200=) c.239_260delinsACAGTTCCTGCATGGGCGGCAT (p.Asn80=) c.683_704delinsACAGTTCCTGCATGGGCGGCAT (p.Asn228=) | |
| 17 | g.7674227del | CA497717324 | TP53 | c.736del (p.Met246Ter) c.340del (p.Met114Ter) c.457del (p.Met153Ter) c.715del (p.Met239Ter) c.619del (p.Met207Ter) c.259del (p.Met87Ter) c.703del (p.Met235Ter) | ClinVar COSMIC |