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.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675226_7676561del | CA645589205 | TP53 | c.36_388del c.-21-1323_-9del c.36_109del c.36_376-9del n.175_644del c.-199_271del c.-82_271del c.36_355del | COSMIC |
| 17 | g.7675505_7676086del | CA2580095057 | TP53 | c.283_376-269del c.-21-850_-21-269del (n.-21-850_-21-269del) c.96+296_97-269del (n.96+296_97-269del) c.283_376-290del n.539_632-269del c.166_259-269del c.283_341-267del | ClinVar |
| 17 | g.7675972_7676086delinsCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA | CA2245932234 | TP53 | c.283_375+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) c.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) n.539_631+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.166_258+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.283_340+53delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG | |
| 17 | g.7675973_7676086del | CA16615710 | TP53 | c.283_375+21del c.-21-850_-21-737del (n.-21-850_-21-737del) c.96+296_96+409del (n.96+296_96+409del) n.539_631+21del c.166_258+21del c.283_340+52del | ClinVar dbSNP |
| 17 | g.7675982_7676013del | CA645589229 | TP53 | c.356_375+12del c.-21-777_-21-746del (n.-21-777_-21-746del) c.96+369_96+400del (n.96+369_96+400del) n.612_631+12del c.239_258+12del c.340+12_340+43del (n.340+12_340+43del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675995_7676194del | CA645589234 | TP53 | c.179_375+3del c.-21-954_-21-755del (n.-21-954_-21-755del) c.96+192_96+391del (n.96+192_96+391del) n.435_631+3del c.62_258+3del c.179_340+34del | COSMIC |
| 17 | g.7675995_7676057del | CA645589237 | TP53 | c.314_375+1del c.-21-819_-21-757del (n.-21-819_-21-757del) c.96+327_96+389del (n.96+327_96+389del) n.570_631+1del c.197_258+1del c.314_340+32del | COSMIC |
| 17 | g.7675995_7676052del | CA645589238 | TP53 | c.318_375del (p.Tyr107ThrfsTer?) c.-21-815_-21-758del (n.-21-815_-21-758del) c.96+331_96+388del (n.96+331_96+388del) c.318_375del (p.Ser106ArgfsTer?) n.574_631del c.201_258del (p.Tyr68ThrfsTer?) c.318_340+31del | COSMIC |
| 17 | g.7675996_7676007del | CA2580095078 | TP53 | c.363_374del (p.Val122_Thr125del) c.-21-770_-21-759del (n.-21-770_-21-759del) c.96+376_96+387del (n.96+376_96+387del) n.619_630del c.246_257del (p.Val83_Thr86del) c.340+19_340+30del (n.340+19_340+30del) | ClinVar |
| 17 | g.7675995_7676272del | CA645589239 | TP53 | c.97_374del (p.Ser33ValfsTer23) c.-21-1036_-21-759del (n.-21-1036_-21-759del) c.96+110_96+387del (n.96+110_96+387del) c.97_374del (p.Ser33AspfsTer16) c.97_374del (p.Ser33ValfsTer?) n.353_630del c.-21_257del c.97_340+30del | COSMIC |
| 17 | g.7676007_7676008insTTGCAAGTCACAG | CA916081947 | TP53 | c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer28) c.-21-760_-21-759insACTGTGACTTGCA (n.-21-760_-21-759insACTGTGACTTGCA) c.96+386_96+387insACTGTGACTTGCA (n.96+386_96+387insACTGTGACTTGCA) c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer21) c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer?) n.629_630insACTGTGACTTGCA c.256_257insACTGTGACTTGCA (p.Thr86AsnfsTer28) c.340+29_340+30insACTGTGACTTGCA (n.340+29_340+30insACTGTGACTTGCA) | ClinVar dbSNP |
| 17 | g.7675997_7676008delinsGCAAGTCACAGA | CA2245932503 | TP53 | c.361_372delinsTCTGTGACTTGC (p.Ser121=) c.-21-772_-21-761delinsTCTGTGACTTGC (n.-21-772_-21-761delinsTCTGTGACTTGC) c.96+374_96+385delinsTCTGTGACTTGC (n.96+374_96+385delinsTCTGTGACTTGC) n.617_628delinsTCTGTGACTTGC c.244_255delinsTCTGTGACTTGC (p.Ser82=) c.340+17_340+28delinsTCTGTGACTTGC (n.340+17_340+28delinsTCTGTGACTTGC) | |
| 17 | g.7675998C>A | CA397844239 | TP53 | c.371G>T (p.Cys124Phe) c.-21-762G>T (n.-21-762G>T) c.96+384G>T (n.96+384G>T) n.627G>T c.254G>T (p.Cys85Phe) c.340+27G>T (n.340+27G>T) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675998C= | CA2245932521 | TP53 | c.371G= (p.Cys124=) c.-21-762G= (n.-21-762G=) c.96+384G= (n.96+384G=) n.627G= c.254G= (p.Cys85=) c.340+27G= (n.340+27G=) | |
| 17 | g.7675998C>G | CA397844266 | TP53 | c.371G>C (p.Cys124Ser) c.-21-762G>C (n.-21-762G>C) c.96+384G>C (n.96+384G>C) n.627G>C c.254G>C (p.Cys85Ser) c.340+27G>C (n.340+27G>C) | ClinVar dbSNP COSMIC |
| 17 | g.7675998C>T | CA397844271 | TP53 | c.371G>A (p.Cys124Tyr) c.-21-762G>A (n.-21-762G>A) c.96+384G>A (n.96+384G>A) n.627G>A c.254G>A (p.Cys85Tyr) c.340+27G>A (n.340+27G>A) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675998dup | CA624865028 | TP53 | c.371dup (p.Cys124TrpfsTer25) c.-21-762dup (n.-21-762dup) c.96+384dup (n.96+384dup) c.371dup (p.Cys124TrpfsTer18) c.371dup (p.Cys124TrpfsTer?) n.627dup c.254dup (p.Cys85TrpfsTer25) c.340+27dup (n.340+27dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676000_7676004del | CA645589242 | TP53 | c.367_371del (p.Thr123HisfsTer24) c.-21-766_-21-762del (n.-21-766_-21-762del) c.96+380_96+384del (n.96+380_96+384del) c.367_371del (p.Thr123HisfsTer17) c.367_371del (p.Thr123HisfsTer?) n.623_627del c.250_254del (p.Thr84HisfsTer24) c.340+23_340+27del (n.340+23_340+27del) | COSMIC |
| 17 | g.7676000_7676006del | CA645589240 | TP53 | c.365_371del (p.Val122AlafsTer?) c.-21-768_-21-762del (n.-21-768_-21-762del) c.96+378_96+384del (n.96+378_96+384del) n.621_627del c.248_254del (p.Val83AlafsTer?) c.340+21_340+27del (n.340+21_340+27del) | COSMIC |
| 17 | g.7675999_7676009del | CA913191055 | TP53 | c.361_371del (p.Ser121HisfsTer24) c.-21-772_-21-762del (n.-21-772_-21-762del) c.96+374_96+384del (n.96+374_96+384del) c.361_371del (p.Ser121HisfsTer17) c.361_371del (p.Ser121HisfsTer?) n.617_627del c.244_254del (p.Ser82HisfsTer24) c.340+17_340+27del (n.340+17_340+27del) | ClinVar dbSNP |
| 17 | g.7675998_7675999insG | CA497925850 | TP53 | c.370_371insC (p.Cys124SerfsTer25) c.-21-763_-21-762insC (n.-21-763_-21-762insC) c.96+383_96+384insC (n.96+383_96+384insC) c.370_371insC (p.Cys124SerfsTer18) c.370_371insC (p.Cys124SerfsTer?) n.626_627insC c.253_254insC (p.Cys85SerfsTer25) c.340+26_340+27insC (n.340+26_340+27insC) | |
| 17 | g.7675999A= | CA2245932540 | TP53 | c.370T= (p.Cys124=) c.-21-763T= (n.-21-763T=) c.96+383T= (n.96+383T=) n.626T= c.253T= (p.Cys85=) c.340+26T= (n.340+26T=) | |
| 17 | g.7675999A>C | CA10580945 | TP53 | c.370T>G (p.Cys124Gly) c.-21-763T>G (n.-21-763T>G) c.96+383T>G (n.96+383T>G) n.626T>G c.253T>G (p.Cys85Gly) c.340+26T>G (n.340+26T>G) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675999A>G | CA397844278 | TP53 | c.370T>C (p.Cys124Arg) c.-21-763T>C (n.-21-763T>C) c.96+383T>C (n.96+383T>C) n.626T>C c.253T>C (p.Cys85Arg) c.340+26T>C (n.340+26T>C) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675999A>T | CA000138 | TP53 | c.370T>A (p.Cys124Ser) c.-21-763T>A (n.-21-763T>A) c.96+383T>A (n.96+383T>A) n.626T>A c.253T>A (p.Cys85Ser) c.340+26T>A (n.340+26T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7675999_7676000dup | CA645589243 | TP53 | c.369_370dup (p.Cys124PhefsTer?) c.-21-764_-21-763dup (n.-21-764_-21-763dup) c.96+382_96+383dup (n.96+382_96+383dup) n.625_626dup c.252_253dup (p.Cys85PhefsTer?) c.340+25_340+26dup (n.340+25_340+26dup) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676000del | CA497925849 | TP53 | c.370del (p.Cys124AlafsTer?) c.-21-763del (n.-21-763del) c.96+383del (n.96+383del) n.626del c.253del (p.Cys85AlafsTer?) c.340+26del (n.340+26del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675999_7676000insG | CA497925851 | TP53 | c.369_370insC (p.Cys124LeufsTer25) c.-21-764_-21-763insC (n.-21-764_-21-763insC) c.96+382_96+383insC (n.96+382_96+383insC) c.369_370insC (p.Cys124LeufsTer18) c.369_370insC (p.Cys124LeufsTer?) n.625_626insC c.252_253insC (p.Cys85LeufsTer25) c.340+25_340+26insC (n.340+25_340+26insC) | |
| 17 | g.7676000A= | CA2245932556 | TP53 | c.369T= (p.Thr123=) c.-21-764T= (n.-21-764T=) c.96+382T= (n.96+382T=) n.625T= c.252T= (p.Thr84=) c.340+25T= (n.340+25T=) | |
| 17 | g.7676000A>C | CA497925852 | TP53 | c.369T>G (p.Thr123=) c.-21-764T>G (n.-21-764T>G) c.96+382T>G (n.96+382T>G) n.625T>G c.252T>G (p.Thr84=) c.340+25T>G (n.340+25T>G) | |
| 17 | g.7676000A>G | CA497925853 | TP53 | c.369T>C (p.Thr123=) c.-21-764T>C (n.-21-764T>C) c.96+382T>C (n.96+382T>C) n.625T>C c.252T>C (p.Thr84=) c.340+25T>C (n.340+25T>C) | |
| 17 | g.7676000A>T | CA497925854 | TP53 | c.369T>A (p.Thr123=) c.-21-764T>A (n.-21-764T>A) c.96+382T>A (n.96+382T>A) n.625T>A c.252T>A (p.Thr84=) c.340+25T>A (n.340+25T>A) | dbSNP |
| 17 | g.7676001_7676004del | CA891842272 | TP53 | c.366_369del (p.Thr123AlafsTer?) c.-21-767_-21-764del (n.-21-767_-21-764del) c.96+379_96+382del (n.96+379_96+382del) n.622_625del c.249_252del (p.Thr84AlafsTer?) c.340+22_340+25del (n.340+22_340+25del) | |
| 17 | g.7676000_7676010del | CA645589244 | TP53 | c.359_369del (p.Lys120MetfsTer25) c.-21-774_-21-764del (n.-21-774_-21-764del) c.96+372_96+382del (n.96+372_96+382del) c.359_369del (p.Lys120MetfsTer18) c.359_369del (p.Lys120MetfsTer?) n.615_625del c.242_252del (p.Lys81MetfsTer25) c.340+15_340+25del (n.340+15_340+25del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676001G>A | CA397844286 | TP53 | c.368C>T (p.Thr123Ile) c.-21-765C>T (n.-21-765C>T) c.96+381C>T (n.96+381C>T) n.624C>T c.251C>T (p.Thr84Ile) c.340+24C>T (n.340+24C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7676001G>C | CA397844287 | TP53 | c.368C>G (p.Thr123Ser) c.-21-765C>G (n.-21-765C>G) c.96+381C>G (n.96+381C>G) n.624C>G c.251C>G (p.Thr84Ser) c.340+24C>G (n.340+24C>G) | ClinVar dbSNP |
| 17 | g.7676001G= | CA2245932566 | TP53 | c.368C= (p.Thr123=) c.-21-765C= (n.-21-765C=) c.96+381C= (n.96+381C=) n.624C= c.251C= (p.Thr84=) c.340+24C= (n.340+24C=) | |
| 17 | g.7676001G>T | CA397844288 | TP53 | c.368C>A (p.Thr123Asn) c.-21-765C>A (n.-21-765C>A) c.96+381C>A (n.96+381C>A) n.624C>A c.251C>A (p.Thr84Asn) c.340+24C>A (n.340+24C>A) | |
| 17 | g.7676002T>A | CA397844300 | TP53 | c.367A>T (p.Thr123Ser) c.-21-766A>T (n.-21-766A>T) c.96+380A>T (n.96+380A>T) n.623A>T c.250A>T (p.Thr84Ser) c.340+23A>T (n.340+23A>T) | dbSNP |
| 17 | g.7676002T>C | CA397844299 | TP53 | c.367A>G (p.Thr123Ala) c.-21-766A>G (n.-21-766A>G) c.96+380A>G (n.96+380A>G) n.623A>G c.250A>G (p.Thr84Ala) c.340+23A>G (n.340+23A>G) | dbSNP gnomAD v4 |
| 17 | g.7676002T>G | CA397844294 | TP53 | c.367A>C (p.Thr123Pro) c.-21-766A>C (n.-21-766A>C) c.96+380A>C (n.96+380A>C) n.623A>C c.250A>C (p.Thr84Pro) c.340+23A>C (n.340+23A>C) | dbSNP |
| 17 | g.7676002_7676003dup | CA645589245 | TP53 | c.366_367dup (p.Thr123ArgfsTer?) c.-21-767_-21-766dup (n.-21-767_-21-766dup) c.96+379_96+380dup (n.96+379_96+380dup) n.622_623dup c.249_250dup (p.Thr84ArgfsTer?) c.340+22_340+23dup (n.340+22_340+23dup) | COSMIC COSMIC COSMIC |
| 17 | g.7676002_7676004del | CA645589246 | TP53 | c.365_367del (p.Val122_Thr123delinsAla) c.-21-768_-21-766del (n.-21-768_-21-766del) c.96+378_96+380del (n.96+378_96+380del) n.621_623del c.248_250del (p.Val83_Thr84delinsAla) c.340+21_340+23del (n.340+21_340+23del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676002_7676004delinsTCA | CA2245932571 | TP53 | c.365_367delinsTGA (p.Val122=) c.-21-768_-21-766delinsTGA (n.-21-768_-21-766delinsTGA) c.96+378_96+380delinsTGA (n.96+378_96+380delinsTGA) n.621_623delinsTGA c.248_250delinsTGA (p.Val83=) c.340+21_340+23delinsTGA (n.340+21_340+23delinsTGA) | |
| 17 | g.7676003_7676010dup | CA2740130096 | TP53 | c.360_367dup (p.Thr123SerfsTer3) c.-21-773_-21-766dup (n.-21-773_-21-766dup) c.96+373_96+380dup (n.96+373_96+380dup) n.616_623dup c.243_250dup (p.Thr84SerfsTer3) c.340+16_340+23dup (n.340+16_340+23dup) | |
| 17 | g.7676003C>A | CA497925855 | TP53 | c.366G>T (p.Val122=) c.-21-767G>T (n.-21-767G>T) c.96+379G>T (n.96+379G>T) n.622G>T c.249G>T (p.Val83=) c.340+22G>T (n.340+22G>T) | ClinVar dbSNP |