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.7674187_7674209del | CA645588486 | TP53 | c.757_779del (p.Thr253GlnfsTer3) c.361_383del (p.Thr121GlnfsTer3) c.478_500del (p.Thr160GlnfsTer3) c.736_758del (p.Thr246GlnfsTer3) c.757_779del (p.Thr253GlnfsTer?) c.640_662del (p.Thr214GlnfsTer3) c.280_302del (p.Thr94GlnfsTer3) c.724_746del (p.Thr242GlnfsTer3) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674190_7674212del | CA2695239762 | TP53 | c.752_774del (p.Ile251ArgfsTer5) c.356_378del (p.Ile119ArgfsTer5) c.473_495del (p.Ile158ArgfsTer5) c.731_753del (p.Ile244ArgfsTer5) c.752_774del (p.Ile251ArgfsTer?) c.635_657del (p.Ile212ArgfsTer5) c.275_297del (p.Ile92ArgfsTer5) c.719_741del (p.Ile240ArgfsTer5) | |
| 17 | g.7674191_7674204del | CA2580094835 | TP53 | c.759_772del (p.Ile254ArgfsTer5) c.363_376del (p.Ile122ArgfsTer5) c.480_493del (p.Ile161ArgfsTer5) c.738_751del (p.Ile247ArgfsTer5) c.759_772del (p.Ile254ArgfsTer?) c.642_655del (p.Ile215ArgfsTer5) c.282_295del (p.Ile95ArgfsTer5) c.726_739del (p.Ile243ArgfsTer5) | ClinVar |
| 17 | g.7674197_7674204del | CA645588501 | TP53 | c.761_768del (p.Ile254ThrfsTer7) c.365_372del (p.Ile122ThrfsTer7) c.482_489del (p.Ile161ThrfsTer7) c.740_747del (p.Ile247ThrfsTer7) c.761_768del (p.Ile254ThrfsTer?) c.644_651del (p.Ile215ThrfsTer7) c.284_291del (p.Ile95ThrfsTer7) c.728_735del (p.Ile243ThrfsTer7) | COSMIC |
| 17 | g.7674195_7674218del | CA645588500 | TP53 | c.745_768del (p.Arg249_Thr256del) c.349_372del (p.Arg117_Thr124del) c.466_489del (p.Arg156_Thr163del) c.724_747del (p.Arg242_Thr249del) c.628_651del (p.Arg210_Thr217del) c.268_291del (p.Arg90_Thr97del) c.712_735del (p.Arg238_Thr245del) | COSMIC |
| 17 | g.7674196_7674199delinsGTGA | CA2245951058 | TP53 | c.764_767delinsTCAC (p.Ile255=) c.368_371delinsTCAC (p.Ile123=) c.485_488delinsTCAC (p.Ile162=) c.743_746delinsTCAC (p.Ile248=) c.647_650delinsTCAC (p.Ile216=) c.287_290delinsTCAC (p.Ile96=) c.731_734delinsTCAC (p.Ile244=) | |
| 17 | g.7674200_7674208del | CA645588503 | TP53 | c.759_767del (p.Ile254_Thr256del) c.363_371del (p.Ile122_Thr124del) c.480_488del (p.Ile161_Thr163del) c.738_746del (p.Ile247_Thr249del) c.642_650del (p.Ile215_Thr217del) c.282_290del (p.Ile95_Thr97del) c.726_734del (p.Ile243_Thr245del) | ClinVar COSMIC COSMIC |
| 17 | g.7674197_7674200del | CA2635876178 | TP53 | c.763_766del (p.Ile255HisfsTer?) c.367_370del (p.Ile123HisfsTer?) c.484_487del (p.Ile162HisfsTer?) c.742_745del (p.Ile248HisfsTer?) c.763_766del (p.Ile255HisfsTer13) c.646_649del (p.Ile216HisfsTer?) c.286_289del (p.Ile96HisfsTer?) c.730_733del (p.Ile244HisfsTer?) | gnomAD v4 |
| 17 | g.7674202_7674204del | CA16620619 | TP53 | c.764_766del (p.Ile255del) c.368_370del (p.Ile123del) c.485_487del (p.Ile162del) c.743_745del (p.Ile248del) c.647_649del (p.Ile216del) c.287_289del (p.Ile96del) c.731_733del (p.Ile244del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199_7674222del | CA2733136155 | TP53 | c.742_765del (p.Arg248_Ile255del) c.346_369del (p.Arg116_Ile123del) c.463_486del (p.Arg155_Ile162del) c.721_744del (p.Arg241_Ile248del) c.625_648del (p.Arg209_Ile216del) c.265_288del (p.Arg89_Ile96del) c.709_732del (p.Arg237_Ile244del) | dbSNP |
| 17 | g.7674199A= | CA2245951109 | TP53 | c.764T= (p.Ile255=) c.368T= (p.Ile123=) c.485T= (p.Ile162=) c.743T= (p.Ile248=) c.647T= (p.Ile216=) c.287T= (p.Ile96=) c.731T= (p.Ile244=) | |
| 17 | g.7674199A>C | CA16603042 | TP53 | c.764T>G (p.Ile255Ser) c.368T>G (p.Ile123Ser) c.485T>G (p.Ile162Ser) c.743T>G (p.Ile248Ser) c.647T>G (p.Ile216Ser) c.287T>G (p.Ile96Ser) c.731T>G (p.Ile244Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199A>G | CA16603043 | TP53 | c.764T>C (p.Ile255Thr) c.368T>C (p.Ile123Thr) c.485T>C (p.Ile162Thr) c.743T>C (p.Ile248Thr) c.647T>C (p.Ile216Thr) c.287T>C (p.Ile96Thr) c.731T>C (p.Ile244Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7674199A>T | CA10580923 | TP53 | c.764T>A (p.Ile255Asn) c.368T>A (p.Ile123Asn) c.485T>A (p.Ile162Asn) c.743T>A (p.Ile248Asn) c.647T>A (p.Ile216Asn) c.287T>A (p.Ile96Asn) c.731T>A (p.Ile244Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199_7674200del | CA645588506 | TP53 | c.763_764del (p.Ile255HisfsTer8) c.367_368del (p.Ile123HisfsTer8) c.484_485del (p.Ile162HisfsTer8) c.742_743del (p.Ile248HisfsTer8) c.763_764del (p.Ile255HisfsTer?) c.646_647del (p.Ile216HisfsTer8) c.286_287del (p.Ile96HisfsTer8) c.730_731del (p.Ile244HisfsTer8) | COSMIC |
| 17 | g.7674199_7674203del | CA645588505 | TP53 | c.760_764del (p.Ile254HisfsTer8) c.364_368del (p.Ile122HisfsTer8) c.481_485del (p.Ile161HisfsTer8) c.739_743del (p.Ile247HisfsTer8) c.760_764del (p.Ile254HisfsTer?) c.643_647del (p.Ile215HisfsTer8) c.283_287del (p.Ile95HisfsTer8) c.727_731del (p.Ile243HisfsTer8) | COSMIC COSMIC COSMIC |
| 17 | g.7674200del | CA497716862 | TP53 | c.763del (p.Ile255SerfsTer?) c.367del (p.Ile123SerfsTer?) c.484del (p.Ile162SerfsTer?) c.742del (p.Ile248SerfsTer?) c.763del (p.Ile255SerfsTer14) c.646del (p.Ile216SerfsTer?) c.286del (p.Ile96SerfsTer?) c.730del (p.Ile244SerfsTer?) | COSMIC |
| 17 | g.7674200T>A | CA16603041 | TP53 | c.763A>T (p.Ile255Phe) c.367A>T (p.Ile123Phe) c.484A>T (p.Ile162Phe) c.742A>T (p.Ile248Phe) c.646A>T (p.Ile216Phe) c.286A>T (p.Ile96Phe) c.730A>T (p.Ile244Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674200T>C | CA397837750 | TP53 | c.763A>G (p.Ile255Val) c.367A>G (p.Ile123Val) c.484A>G (p.Ile162Val) c.742A>G (p.Ile248Val) c.646A>G (p.Ile216Val) c.286A>G (p.Ile96Val) c.730A>G (p.Ile244Val) | COSMIC |
| 17 | g.7674200T>G | CA397837752 | TP53 | c.763A>C (p.Ile255Leu) c.367A>C (p.Ile123Leu) c.484A>C (p.Ile162Leu) c.742A>C (p.Ile248Leu) c.646A>C (p.Ile216Leu) c.286A>C (p.Ile96Leu) c.730A>C (p.Ile244Leu) | |
| 17 | g.7674200T= | CA2245951126 | TP53 | c.763A= (p.Ile255=) c.367A= (p.Ile123=) c.484A= (p.Ile162=) c.742A= (p.Ile248=) c.646A= (p.Ile216=) c.286A= (p.Ile96=) c.730A= (p.Ile244=) | |
| 17 | g.7674200_7674209delinsTGATGGTGAG | CA2245951132 | TP53 | c.754_763delinsCTCACCATCA (p.Leu252=) c.358_367delinsCTCACCATCA (p.Leu120=) c.475_484delinsCTCACCATCA (p.Leu159=) c.733_742delinsCTCACCATCA (p.Leu245=) c.637_646delinsCTCACCATCA (p.Leu213=) c.277_286delinsCTCACCATCA (p.Leu93=) c.721_730delinsCTCACCATCA (p.Leu241=) | |
| 17 | g.7674200_7674201insCA | CA2576230649 | TP53 | c.762_763insTG (p.Ile255Ter) c.366_367insTG (p.Ile123Ter) c.483_484insTG (p.Ile162Ter) c.741_742insTG (p.Ile248Ter) c.645_646insTG (p.Ile216Ter) c.285_286insTG (p.Ile96Ter) c.729_730insTG (p.Ile244Ter) | |
| 17 | g.7674201del | CA497716869 | TP53 | c.762del (p.Ile255SerfsTer?) c.366del (p.Ile123SerfsTer?) c.483del (p.Ile162SerfsTer?) c.741del (p.Ile248SerfsTer?) c.762del (p.Ile255SerfsTer14) c.645del (p.Ile216SerfsTer?) c.285del (p.Ile96SerfsTer?) c.729del (p.Ile244SerfsTer?) | COSMIC |
| 17 | g.7674201G>A | CA497716865 | TP53 | c.762C>T (p.Ile254=) c.366C>T (p.Ile122=) c.483C>T (p.Ile161=) c.741C>T (p.Ile247=) c.645C>T (p.Ile215=) c.285C>T (p.Ile95=) c.729C>T (p.Ile243=) | ClinVar dbSNP |
| 17 | g.7674201G>C | CA397837754 | TP53 | c.762C>G (p.Ile254Met) c.366C>G (p.Ile122Met) c.483C>G (p.Ile161Met) c.741C>G (p.Ile247Met) c.645C>G (p.Ile215Met) c.285C>G (p.Ile95Met) c.729C>G (p.Ile243Met) | ClinVar dbSNP |
| 17 | g.7674201G= | CA2245951138 | TP53 | c.762C= (p.Ile254=) c.366C= (p.Ile122=) c.483C= (p.Ile161=) c.741C= (p.Ile247=) c.645C= (p.Ile215=) c.285C= (p.Ile95=) c.729C= (p.Ile243=) | |
| 17 | g.7674201G>T | CA497716866 | TP53 | c.762C>A (p.Ile254=) c.366C>A (p.Ile122=) c.483C>A (p.Ile161=) c.741C>A (p.Ile247=) c.645C>A (p.Ile215=) c.285C>A (p.Ile95=) c.729C>A (p.Ile243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7674201_7674202delinsAT | CA2739265546 | TP53 | c.761_762delinsAT (p.Ile254Asn) c.365_366delinsAT (p.Ile122Asn) c.482_483delinsAT (p.Ile161Asn) c.740_741delinsAT (p.Ile247Asn) c.644_645delinsAT (p.Ile215Asn) c.284_285delinsAT (p.Ile95Asn) c.728_729delinsAT (p.Ile243Asn) | ClinVar |
| 17 | g.7674206_7674214del | CA645588507 | TP53 | c.754_762del (p.Leu252_Ile254del) c.358_366del (p.Leu120_Ile122del) c.475_483del (p.Leu159_Ile161del) c.733_741del (p.Leu245_Ile247del) c.637_645del (p.Leu213_Ile215del) c.277_285del (p.Leu93_Ile95del) c.721_729del (p.Leu241_Ile243del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A= | CA2245951151 | TP53 | c.761T= (p.Ile254=) c.365T= (p.Ile122=) c.482T= (p.Ile161=) c.740T= (p.Ile247=) c.644T= (p.Ile215=) c.284T= (p.Ile95=) c.728T= (p.Ile243=) | |
| 17 | g.7674202A>C | CA397837758 | TP53 | c.761T>G (p.Ile254Ser) c.365T>G (p.Ile122Ser) c.482T>G (p.Ile161Ser) c.740T>G (p.Ile247Ser) c.644T>G (p.Ile215Ser) c.284T>G (p.Ile95Ser) c.728T>G (p.Ile243Ser) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A>G | CA397837761 | TP53 | c.761T>C (p.Ile254Thr) c.365T>C (p.Ile122Thr) c.482T>C (p.Ile161Thr) c.740T>C (p.Ile247Thr) c.644T>C (p.Ile215Thr) c.284T>C (p.Ile95Thr) c.728T>C (p.Ile243Thr) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A>T | CA397837760 | TP53 | c.761T>A (p.Ile254Asn) c.365T>A (p.Ile122Asn) c.482T>A (p.Ile161Asn) c.740T>A (p.Ile247Asn) c.644T>A (p.Ile215Asn) c.284T>A (p.Ile95Asn) c.728T>A (p.Ile243Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202_7674203delinsAT | CA2245951157 | TP53 | c.760_761delinsAT (p.Ile254=) c.364_365delinsAT (p.Ile122=) c.481_482delinsAT (p.Ile161=) c.739_740delinsAT (p.Ile247=) c.643_644delinsAT (p.Ile215=) c.283_284delinsAT (p.Ile95=) c.727_728delinsAT (p.Ile243=) | |
| 17 | g.7674202_7674203delinsTC | CA645588508 | TP53 | c.760_761delinsGA (p.Ile254Asp) c.364_365delinsGA (p.Ile122Asp) c.481_482delinsGA (p.Ile161Asp) c.739_740delinsGA (p.Ile247Asp) c.643_644delinsGA (p.Ile215Asp) c.283_284delinsGA (p.Ile95Asp) c.727_728delinsGA (p.Ile243Asp) | COSMIC |
| 17 | g.7674203del | CA497716879 | TP53 | c.760del (p.Ile254SerfsTer?) c.364del (p.Ile122SerfsTer?) c.481del (p.Ile161SerfsTer?) c.739del (p.Ile247SerfsTer?) c.760del (p.Ile254SerfsTer15) c.643del (p.Ile215SerfsTer?) c.283del (p.Ile95SerfsTer?) c.727del (p.Ile243SerfsTer?) | dbSNP COSMIC |
| 17 | g.7674203T>A | CA397837763 | TP53 | c.760A>T (p.Ile254Phe) c.364A>T (p.Ile122Phe) c.481A>T (p.Ile161Phe) c.739A>T (p.Ile247Phe) c.643A>T (p.Ile215Phe) c.283A>T (p.Ile95Phe) c.727A>T (p.Ile243Phe) | COSMIC |
| 17 | g.7674203T>C | CA001720 | TP53 | c.760A>G (p.Ile254Val) c.364A>G (p.Ile122Val) c.481A>G (p.Ile161Val) c.739A>G (p.Ile247Val) c.643A>G (p.Ile215Val) c.283A>G (p.Ile95Val) c.727A>G (p.Ile243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7674203T>G | CA397837772 | TP53 | c.760A>C (p.Ile254Leu) c.364A>C (p.Ile122Leu) c.481A>C (p.Ile161Leu) c.739A>C (p.Ile247Leu) c.643A>C (p.Ile215Leu) c.283A>C (p.Ile95Leu) c.727A>C (p.Ile243Leu) | COSMIC COSMIC COSMIC |
| 17 | g.7674203T= | CA2245951174 | TP53 | c.760A= (p.Ile254=) c.364A= (p.Ile122=) c.481A= (p.Ile161=) c.739A= (p.Ile247=) c.643A= (p.Ile215=) c.283A= (p.Ile95=) c.727A= (p.Ile243=) | |
| 17 | g.7674203_7674204delinsTG | CA2245951167 | TP53 | c.759_760delinsCA (p.Thr253=) c.363_364delinsCA (p.Thr121=) c.480_481delinsCA (p.Thr160=) c.738_739delinsCA (p.Thr246=) c.642_643delinsCA (p.Thr214=) c.282_283delinsCA (p.Thr94=) c.726_727delinsCA (p.Thr242=) | |
| 17 | g.7674203_7674206del | CA645588510 | TP53 | c.757_760del (p.Thr253SerfsTer?) c.361_364del (p.Thr121SerfsTer?) c.478_481del (p.Thr160SerfsTer?) c.736_739del (p.Thr246SerfsTer?) c.757_760del (p.Thr253SerfsTer15) c.640_643del (p.Thr214SerfsTer?) c.280_283del (p.Thr94SerfsTer?) c.724_727del (p.Thr242SerfsTer?) | COSMIC |
| 17 | g.7674205_7674207dup | CA915949526 | TP53 | c.758_760dup (p.Thr253_Ile254insThr) c.362_364dup (p.Thr121_Ile122insThr) c.479_481dup (p.Thr160_Ile161insThr) c.737_739dup (p.Thr246_Ile247insThr) c.641_643dup (p.Thr214_Ile215insThr) c.281_283dup (p.Thr94_Ile95insThr) c.725_727dup (p.Thr242_Ile243insThr) | ClinVar dbSNP |
| 17 | g.7674205_7674207del | CA645588509 | TP53 | c.758_760del (p.Thr253del) c.362_364del (p.Thr121del) c.479_481del (p.Thr160del) c.737_739del (p.Thr246del) c.641_643del (p.Thr214del) c.281_283del (p.Thr94del) c.725_727del (p.Thr242del) | COSMIC |
| 17 | g.7674204G>A | CA497717194 | TP53 | c.759C>T (p.Thr253=) c.363C>T (p.Thr121=) c.480C>T (p.Thr160=) c.738C>T (p.Thr246=) c.642C>T (p.Thr214=) c.282C>T (p.Thr94=) c.726C>T (p.Thr242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674204G>C | CA497717196 | TP53 | c.759C>G (p.Thr253=) c.363C>G (p.Thr121=) c.480C>G (p.Thr160=) c.738C>G (p.Thr246=) c.642C>G (p.Thr214=) c.282C>G (p.Thr94=) c.726C>G (p.Thr242=) |