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.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.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.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.7676005_7676006del | CA000136 | TP53 | c.365_366del (p.Val122AspfsTer26) c.-21-768_-21-767del (n.-21-768_-21-767del) c.96+378_96+379del (n.96+378_96+379del) c.365_366del (p.Val122AspfsTer19) c.365_366del (p.Val122AspfsTer?) n.621_622del c.248_249del (p.Val83AspfsTer26) c.340+21_340+22del (n.340+21_340+22del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676006_7676040dup | CA915949544 | TP53 | c.331_365dup (p.Thr123TrpfsTer12) c.-21-802_-21-768dup (n.-21-802_-21-768dup) c.96+344_96+378dup (n.96+344_96+378dup) n.587_621dup c.214_248dup (p.Thr84TrpfsTer12) c.331_340+21dup | ClinVar dbSNP |
| 17 | g.7676005C>A | CA397844318 | TP53 | c.364G>T (p.Val122Leu) c.-21-769G>T (n.-21-769G>T) c.96+377G>T (n.96+377G>T) n.620G>T c.247G>T (p.Val83Leu) c.340+20G>T (n.340+20G>T) | ClinVar COSMIC |
| 17 | g.7676005C= | CA2245932601 | TP53 | c.364G= (p.Val122=) c.-21-769G= (n.-21-769G=) c.96+377G= (n.96+377G=) n.620G= c.247G= (p.Val83=) c.340+20G= (n.340+20G=) | |
| 17 | g.7676005C>G | CA397844319 | TP53 | c.364G>C (p.Val122Leu) c.-21-769G>C (n.-21-769G>C) c.96+377G>C (n.96+377G>C) n.620G>C c.247G>C (p.Val83Leu) c.340+20G>C (n.340+20G>C) | dbSNP |
| 17 | g.7676005C>T | CA000134 | TP53 | c.364G>A (p.Val122Met) c.-21-769G>A (n.-21-769G>A) c.96+377G>A (n.96+377G>A) n.620G>A c.247G>A (p.Val83Met) c.340+20G>A (n.340+20G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7676010_7676040dup | CA645373069 | TP53 | c.334_364dup (p.Val122GlyfsTer37) c.-21-799_-21-769dup (n.-21-799_-21-769dup) c.96+347_96+377dup (n.96+347_96+377dup) c.334_364dup (p.Val122GlyfsTer30) c.334_364dup (p.Val122GlyfsTer?) n.590_620dup c.217_247dup (p.Val83GlyfsTer37) c.333+1_340+20dup | ClinVar dbSNP |
| 17 | g.7676006A= | CA2245932610 | TP53 | c.363T= (p.Ser121=) c.-21-770T= (n.-21-770T=) c.96+376T= (n.96+376T=) n.619T= c.246T= (p.Ser82=) c.340+19T= (n.340+19T=) | |
| 17 | g.7676006A>C | CA497925858 | TP53 | c.363T>G (p.Ser121=) c.-21-770T>G (n.-21-770T>G) c.96+376T>G (n.96+376T>G) n.619T>G c.246T>G (p.Ser82=) c.340+19T>G (n.340+19T>G) | ClinVar dbSNP |
| 17 | g.7676006A>G | CA497925860 | TP53 | c.363T>C (p.Ser121=) c.-21-770T>C (n.-21-770T>C) c.96+376T>C (n.96+376T>C) n.619T>C c.246T>C (p.Ser82=) c.340+19T>C (n.340+19T>C) | dbSNP |
| 17 | g.7676006A>T | CA497925859 | TP53 | c.363T>A (p.Ser121=) c.-21-770T>A (n.-21-770T>A) c.96+376T>A (n.96+376T>A) n.619T>A c.246T>A (p.Ser82=) c.340+19T>A (n.340+19T>A) | dbSNP |
| 17 | g.7676007_7676008del | CA645589249 | TP53 | c.362_363del (p.Ser121CysfsTer27) c.-21-771_-21-770del (n.-21-771_-21-770del) c.96+375_96+376del (n.96+375_96+376del) c.362_363del (p.Ser121CysfsTer20) c.362_363del (p.Ser121CysfsTer?) n.618_619del c.245_246del (p.Ser82CysfsTer27) c.340+18_340+19del (n.340+18_340+19del) | COSMIC |
| 17 | g.7676007del | CA497925861 | TP53 | c.362del (p.Ser121LeufsTer2) c.-21-771del (n.-21-771del) c.96+375del (n.96+375del) n.618del c.245del (p.Ser82LeufsTer2) c.340+18del (n.340+18del) | COSMIC |
| 17 | g.7676007G>A | CA397844321 | TP53 | c.362C>T (p.Ser121Phe) c.-21-771C>T (n.-21-771C>T) c.96+375C>T (n.96+375C>T) n.618C>T c.245C>T (p.Ser82Phe) c.340+18C>T (n.340+18C>T) | dbSNP COSMIC |
| 17 | g.7676007G>C | CA397844323 | TP53 | c.362C>G (p.Ser121Cys) c.-21-771C>G (n.-21-771C>G) c.96+375C>G (n.96+375C>G) n.618C>G c.245C>G (p.Ser82Cys) c.340+18C>G (n.340+18C>G) | dbSNP |
| 17 | g.7676007G>T | CA397844325 | TP53 | c.362C>A (p.Ser121Tyr) c.-21-771C>A (n.-21-771C>A) c.96+375C>A (n.96+375C>A) n.618C>A c.245C>A (p.Ser82Tyr) c.340+18C>A (n.340+18C>A) | |
| 17 | g.7676007_7676026del | CA645589250 | TP53 | c.343_362del (p.His115CysfsTer27) c.-21-790_-21-771del (n.-21-790_-21-771del) c.96+356_96+375del (n.96+356_96+375del) c.343_362del (p.His115CysfsTer20) c.343_362del (p.His115CysfsTer?) n.599_618del c.226_245del (p.His76CysfsTer27) c.339_340+18del | COSMIC |
| 17 | g.7676008A= | CA2245932630 | TP53 | c.361T= (p.Ser121=) c.-21-772T= (n.-21-772T=) c.96+374T= (n.96+374T=) n.617T= c.244T= (p.Ser82=) c.340+17T= (n.340+17T=) | |
| 17 | g.7676008A>C | CA397844327 | TP53 | c.361T>G (p.Ser121Ala) c.-21-772T>G (n.-21-772T>G) c.96+374T>G (n.96+374T>G) n.617T>G c.244T>G (p.Ser82Ala) c.340+17T>G (n.340+17T>G) | |
| 17 | g.7676008A>G | CA397844329 | TP53 | c.361T>C (p.Ser121Pro) c.-21-772T>C (n.-21-772T>C) c.96+374T>C (n.96+374T>C) n.617T>C c.244T>C (p.Ser82Pro) c.340+17T>C (n.340+17T>C) | ClinVar dbSNP |
| 17 | g.7676008A>T | CA397844335 | TP53 | c.361T>A (p.Ser121Thr) c.-21-772T>A (n.-21-772T>A) c.96+374T>A (n.96+374T>A) n.617T>A c.244T>A (p.Ser82Thr) c.340+17T>A (n.340+17T>A) | dbSNP |
| 17 | g.7676008_7676018del | CA645589251 | TP53 | c.351_361del (p.Thr118CysfsTer27) c.-21-782_-21-772del (n.-21-782_-21-772del) c.96+364_96+374del (n.96+364_96+374del) c.351_361del (p.Thr118CysfsTer20) c.351_361del (p.Thr118CysfsTer?) n.607_617del c.234_244del (p.Thr79CysfsTer27) c.340+7_340+17del (n.340+7_340+17del) | COSMIC |
| 17 | g.7676008_7676009insT | CA645589252 | TP53 | c.360_361insA (p.Ser121IlefsTer28) c.-21-773_-21-772insA (n.-21-773_-21-772insA) c.96+373_96+374insA (n.96+373_96+374insA) c.360_361insA (p.Ser121IlefsTer21) c.360_361insA (p.Ser121IlefsTer?) n.616_617insA c.243_244insA (p.Ser82IlefsTer28) c.340+16_340+17insA (n.340+16_340+17insA) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676009del | CA2695202159 | TP53 | c.360del (p.Lys120AsnfsTer3) c.-21-773del (n.-21-773del) c.96+373del (n.96+373del) n.616del c.243del (p.Lys81AsnfsTer3) c.340+16del (n.340+16del) | |
| 17 | g.7676009C>A | CA397844343 | TP53 | c.360G>T (p.Lys120Asn) c.-21-773G>T (n.-21-773G>T) c.96+373G>T (n.96+373G>T) n.616G>T c.243G>T (p.Lys81Asn) c.340+16G>T (n.340+16G>T) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676009C>G | CA397844341 | TP53 | c.360G>C (p.Lys120Asn) c.-21-773G>C (n.-21-773G>C) c.96+373G>C (n.96+373G>C) n.616G>C c.243G>C (p.Lys81Asn) c.340+16G>C (n.340+16G>C) | dbSNP |
| 17 | g.7676009C>T | CA497925862 | TP53 | c.360G>A (p.Lys120=) c.-21-773G>A (n.-21-773G>A) c.96+373G>A (n.96+373G>A) n.616G>A c.243G>A (p.Lys81=) c.340+16G>A (n.340+16G>A) | dbSNP |
| 17 | g.7676011_7676058dup | CA2245932646 | TP53 | c.313_360dup (p.Lys120_Ser121insGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLys) c.-21-820_-21-773dup (n.-21-820_-21-773dup) c.96+326_96+373dup (n.96+326_96+373dup) n.569_616dup c.196_243dup (p.Lys81_Ser82insGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLys) c.313_340+16dup | ClinVar dbSNP |
| 17 | g.7676010T>A | CA397844346 | TP53 | c.359A>T (p.Lys120Met) c.-21-774A>T (n.-21-774A>T) c.96+372A>T (n.96+372A>T) n.615A>T c.242A>T (p.Lys81Met) c.340+15A>T (n.340+15A>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676010T>C | CA397844347 | TP53 | c.359A>G (p.Lys120Arg) c.-21-774A>G (n.-21-774A>G) c.96+372A>G (n.96+372A>G) n.615A>G c.242A>G (p.Lys81Arg) c.340+15A>G (n.340+15A>G) | ClinVar dbSNP gnomAD v4 COSMIC |