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.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.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.7674869_7674886del | CA2580617666 | TP53 | c.645_662del (p.Ser215_Glu221delinsArg) c.249_266del (p.Ser83_Glu89delinsArg) c.366_383del (p.Ser122_Glu128delinsArg) c.624_641del (p.Ser208_Glu214delinsArg) n.901_918del n.67+167_67+184del c.528_545del (p.Ser176_Glu182delinsArg) c.168_185del (p.Ser56_Glu62delinsArg) c.612_629del (p.Ser204_Glu210delinsArg) | ClinVar |
| 17 | g.7674872_7674886del | CA645588723 | TP53 | c.647_661del (p.Val216_Tyr220del) c.251_265del (p.Val84_Tyr88del) c.368_382del (p.Val123_Tyr127del) c.626_640del (p.Val209_Tyr213del) n.903_917del n.67+169_67+183del c.530_544del (p.Val177_Tyr181del) c.170_184del (p.Val57_Tyr61del) c.614_628del (p.Val205_Tyr209del) | COSMIC |
| 17 | g.7674873_7674890del | CA2695223076 | TP53 | c.643_660del (p.Ser215_Tyr220del) c.247_264del (p.Ser83_Tyr88del) c.364_381del (p.Ser122_Tyr127del) c.622_639del (p.Ser208_Tyr213del) n.899_916del n.67+165_67+182del c.526_543del (p.Ser176_Tyr181del) c.166_183del (p.Ser56_Tyr61del) c.610_627del (p.Ser204_Tyr209del) | |
| 17 | g.7674874_7674889del | CA645588725 | TP53 | c.644_659del (p.Ser215MetfsTer27) c.248_263del (p.Ser83MetfsTer27) c.365_380del (p.Ser122MetfsTer27) c.623_638del (p.Ser208MetfsTer27) n.900_915del n.67+166_67+181del c.527_542del (p.Ser176MetfsTer27) c.167_182del (p.Ser56MetfsTer27) c.611_626del (p.Ser204MetfsTer27) | COSMIC |
| 17 | g.7674872_7674909del | CA645588726 | TP53 | c.622_659del (p.Asp208Ter) c.226_263del (p.Asp76Ter) c.343_380del (p.Asp115Ter) c.601_638del (p.Asp201Ter) n.878_915del n.67+144_67+181del c.505_542del (p.Asp169Ter) c.145_182del (p.Asp49Ter) c.589_626del (p.Asp197Ter) | COSMIC |
| 17 | g.7674875_7674976dup | CA2580094939 | TP53 | c.560-3_658dup c.164-3_262dup c.281-3_379dup c.539-3_637dup n.816-3_914dup n.67+79_67+180dup c.443-3_541dup c.83-3_181dup c.527-3_625dup | ClinVar |
| 17 | g.7674877_7674901del | CA645588731 | TP53 | c.631_655del (p.Thr211ProfsTer28) c.235_259del (p.Thr79ProfsTer28) c.352_376del (p.Thr118ProfsTer28) c.610_634del (p.Thr204ProfsTer28) n.887_911del n.67+153_67+177del c.514_538del (p.Thr172ProfsTer28) c.154_178del (p.Thr52ProfsTer28) c.598_622del (p.Thr200ProfsTer28) | COSMIC |
| 17 | g.7674878_7674886del | CA645588733 | TP53 | c.645_653del (p.Ser215_Val218delinsArg) c.249_257del (p.Ser83_Val86delinsArg) c.366_374del (p.Ser122_Val125delinsArg) c.624_632del (p.Ser208_Val211delinsArg) n.901_909del n.67+167_67+175del c.528_536del (p.Ser176_Val179delinsArg) c.168_176del (p.Ser56_Val59delinsArg) c.612_620del (p.Ser204_Val207delinsArg) | COSMIC |
| 17 | g.7674879_7674887del | CA645588735 | TP53 | c.644_652del (p.Ser215_Val218delinsMet) c.248_256del (p.Ser83_Val86delinsMet) c.365_373del (p.Ser122_Val125delinsMet) c.623_631del (p.Ser208_Val211delinsMet) n.900_908del n.67+166_67+174del c.527_535del (p.Ser176_Val179delinsMet) c.167_175del (p.Ser56_Val59delinsMet) c.611_619del (p.Ser204_Val207delinsMet) | COSMIC |
| 17 | g.7674879_7674888del | CA645588734 | TP53 | c.643_652del (p.Ser215CysfsTer29) c.247_256del (p.Ser83CysfsTer29) c.364_373del (p.Ser122CysfsTer29) c.622_631del (p.Ser208CysfsTer29) n.899_908del n.67+165_67+174del c.526_535del (p.Ser176CysfsTer29) c.166_175del (p.Ser56CysfsTer29) c.610_619del (p.Ser204CysfsTer29) | COSMIC |
| 17 | g.7674883_7674887dup | CA913190590 | TP53 | c.647_651dup (p.Val218TrpfsTer31) c.251_255dup (p.Val86TrpfsTer31) c.368_372dup (p.Val125TrpfsTer31) c.626_630dup (p.Val211TrpfsTer31) n.903_907dup n.67+169_67+173dup c.530_534dup (p.Val179TrpfsTer31) c.170_174dup (p.Val59TrpfsTer31) c.614_618dup (p.Val207TrpfsTer31) | ClinVar dbSNP |
| 17 | g.7674881_7674889del | CA645588736 | TP53 | c.642_650del (p.His214_Val217delinsGln) c.246_254del (p.His82_Val85delinsGln) c.363_371del (p.His121_Val124delinsGln) c.621_629del (p.His207_Val210delinsGln) n.898_906del n.67+164_67+172del c.525_533del (p.His175_Val178delinsGln) c.165_173del (p.His55_Val58delinsGln) c.609_617del (p.His203_Val206delinsGln) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674883_7674909del | CA645588738 | TP53 | c.623_649del (p.Asp208_Val216del) c.227_253del (p.Asp76_Val84del) c.344_370del (p.Asp115_Val123del) c.602_628del (p.Asp201_Val209del) n.879_905del n.67+145_67+171del c.506_532del (p.Asp169_Val177del) c.146_172del (p.Asp49_Val57del) c.590_616del (p.Asp197_Val205del) | COSMIC |
| 17 | g.7674885_7674914del | CA645588737 | TP53 | c.620_649del (p.Asp207_Val216del) c.224_253del (p.Asp75_Val84del) c.341_370del (p.Asp114_Val123del) c.599_628del (p.Asp200_Val209del) n.876_905del n.67+142_67+171del c.503_532del (p.Asp168_Val177del) c.143_172del (p.Asp48_Val57del) c.587_616del (p.Asp196_Val205del) | COSMIC |
| 17 | g.7674886_7674887del | CA645588739 | TP53 | c.647_648del (p.Val216GlyfsTer5) c.251_252del (p.Val84GlyfsTer5) c.368_369del (p.Val123GlyfsTer5) c.626_627del (p.Val209GlyfsTer5) n.903_904del n.67+169_67+170del c.530_531del (p.Val177GlyfsTer5) c.170_171del (p.Val57GlyfsTer5) c.614_615del (p.Val205GlyfsTer5) | COSMIC |
| 17 | g.7674884_7674886del | CA2573154669 | TP53 | c.645_647del (p.Ser215_Val216delinsArg) c.249_251del (p.Ser83_Val84delinsArg) c.366_368del (p.Ser122_Val123delinsArg) c.624_626del (p.Ser208_Val209delinsArg) n.901_903del n.67+167_67+169del c.528_530del (p.Ser176_Val177delinsArg) c.168_170del (p.Ser56_Val57delinsArg) c.612_614del (p.Ser204_Val205delinsArg) | ClinVar dbSNP |
| 17 | g.7674884_7674891del | CA645588741 | TP53 | c.640_647del (p.His214GlyfsTer5) c.244_251del (p.His82GlyfsTer5) c.361_368del (p.His121GlyfsTer5) c.619_626del (p.His207GlyfsTer5) n.896_903del n.67+162_67+169del c.523_530del (p.His175GlyfsTer5) c.163_170del (p.His55GlyfsTer5) c.607_614del (p.His203GlyfsTer5) | COSMIC |
| 17 | g.7674885_7674888del | CA645588742 | TP53 | c.643_646del (p.Ser215TrpfsTer?) c.247_250del (p.Ser83TrpfsTer?) c.364_367del (p.Ser122TrpfsTer?) c.622_625del (p.Ser208TrpfsTer?) n.899_902del n.67+165_67+168del c.526_529del (p.Ser176TrpfsTer?) c.166_169del (p.Ser56TrpfsTer?) c.610_613del (p.Ser204TrpfsTer?) | COSMIC |
| 17 | g.7674886del | CA2573154670 | TP53 | c.645del (p.Ser215ArgfsTer?) c.249del (p.Ser83ArgfsTer?) c.366del (p.Ser122ArgfsTer?) c.624del (p.Ser208ArgfsTer?) n.901del n.67+167del c.528del (p.Ser176ArgfsTer?) c.168del (p.Ser56ArgfsTer?) c.612del (p.Ser204ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7674886A= | CA2245954258 | TP53 | c.645T= (p.Ser215=) c.249T= (p.Ser83=) c.366T= (p.Ser122=) c.624T= (p.Ser208=) n.901T= n.67+167T= c.528T= (p.Ser176=) c.168T= (p.Ser56=) c.612T= (p.Ser204=) | |
| 17 | g.7674886A>C | CA16603076 | TP53 | c.645T>G (p.Ser215Arg) c.249T>G (p.Ser83Arg) c.366T>G (p.Ser122Arg) c.624T>G (p.Ser208Arg) n.901T>G n.67+167T>G c.528T>G (p.Ser176Arg) c.168T>G (p.Ser56Arg) c.612T>G (p.Ser204Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.7674886A>G | CA497925298 | TP53 | c.645T>C (p.Ser215=) c.249T>C (p.Ser83=) c.366T>C (p.Ser122=) c.624T>C (p.Ser208=) n.901T>C n.67+167T>C c.528T>C (p.Ser176=) c.168T>C (p.Ser56=) c.612T>C (p.Ser204=) | ClinVar dbSNP COSMIC |
| 17 | g.7674886A>T | CA397839990 | TP53 | c.645T>A (p.Ser215Arg) c.249T>A (p.Ser83Arg) c.366T>A (p.Ser122Arg) c.624T>A (p.Ser208Arg) n.901T>A n.67+167T>A c.528T>A (p.Ser176Arg) c.168T>A (p.Ser56Arg) c.612T>A (p.Ser204Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674886_7674887delinsAC | CA2245954257 | TP53 | c.644_645delinsGT (p.Ser215=) c.248_249delinsGT (p.Ser83=) c.365_366delinsGT (p.Ser122=) c.623_624delinsGT (p.Ser208=) n.900_901delinsGT n.67+166_67+167delinsGT c.527_528delinsGT (p.Ser176=) c.167_168delinsGT (p.Ser56=) c.611_612delinsGT (p.Ser204=) | |
| 17 | g.7674886_7674900del | CA645588743 | TP53 | c.631_645del (p.Thr211_Ser215del) c.235_249del (p.Thr79_Ser83del) c.352_366del (p.Thr118_Ser122del) c.610_624del (p.Thr204_Ser208del) n.887_901del n.67+153_67+167del c.514_528del (p.Thr172_Ser176del) c.154_168del (p.Thr52_Ser56del) c.598_612del (p.Thr200_Ser204del) | COSMIC |
| 17 | g.7674887del | CA497925299 | TP53 | c.644del (p.Ser215MetfsTer?) c.248del (p.Ser83MetfsTer?) c.365del (p.Ser122MetfsTer?) c.623del (p.Ser208MetfsTer?) n.900del n.67+166del c.527del (p.Ser176MetfsTer?) c.167del (p.Ser56MetfsTer?) c.611del (p.Ser204MetfsTer?) | ClinVar dbSNP COSMIC |
| 17 | g.7674887C>A | CA16603075 | TP53 | c.644G>T (p.Ser215Ile) c.248G>T (p.Ser83Ile) c.365G>T (p.Ser122Ile) c.623G>T (p.Ser208Ile) n.900G>T n.67+166G>T c.527G>T (p.Ser176Ile) c.167G>T (p.Ser56Ile) c.611G>T (p.Ser204Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674887C= | CA2245954292 | TP53 | c.644G= (p.Ser215=) c.248G= (p.Ser83=) c.365G= (p.Ser122=) c.623G= (p.Ser208=) n.900G= n.67+166G= c.527G= (p.Ser176=) c.167G= (p.Ser56=) c.611G= (p.Ser204=) | |
| 17 | g.7674887C>G | CA000307 | TP53 | c.644G>C (p.Ser215Thr) c.248G>C (p.Ser83Thr) c.365G>C (p.Ser122Thr) c.623G>C (p.Ser208Thr) n.900G>C n.67+166G>C c.527G>C (p.Ser176Thr) c.167G>C (p.Ser56Thr) c.611G>C (p.Ser204Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674887C>T | CA16603077 | TP53 | c.644G>A (p.Ser215Asn) c.248G>A (p.Ser83Asn) c.365G>A (p.Ser122Asn) c.623G>A (p.Ser208Asn) n.900G>A n.67+166G>A c.527G>A (p.Ser176Asn) c.167G>A (p.Ser56Asn) c.611G>A (p.Ser204Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674887_7674888del | CA645588745 | TP53 | c.643_644del (p.Ser215CysfsTer6) c.247_248del (p.Ser83CysfsTer6) c.364_365del (p.Ser122CysfsTer6) c.622_623del (p.Ser208CysfsTer6) n.899_900del n.67+165_67+166del c.526_527del (p.Ser176CysfsTer6) c.166_167del (p.Ser56CysfsTer6) c.610_611del (p.Ser204CysfsTer6) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674887_7674888dup | CA658683990 | TP53 | c.643_644dup (p.Ser215ArgfsTer?) c.247_248dup (p.Ser83ArgfsTer?) c.364_365dup (p.Ser122ArgfsTer?) c.622_623dup (p.Ser208ArgfsTer?) n.899_900dup n.67+165_67+166dup c.526_527dup (p.Ser176ArgfsTer?) c.166_167dup (p.Ser56ArgfsTer?) c.610_611dup (p.Ser204ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7674887_7674889delinsCTA | CA2245954299 | TP53 | c.642_644delinsTAG (p.His214=) c.246_248delinsTAG (p.His82=) c.363_365delinsTAG (p.His121=) c.621_623delinsTAG (p.His207=) n.898_900delinsTAG n.67+164_67+166delinsTAG c.525_527delinsTAG (p.His175=) c.165_167delinsTAG (p.His55=) c.609_611delinsTAG (p.His203=) | |
| 17 | g.7674887_7674906del | CA645588744 | TP53 | c.625_644del (p.Arg209CysfsTer6) c.229_248del (p.Arg77CysfsTer6) c.346_365del (p.Arg116CysfsTer6) c.604_623del (p.Arg202CysfsTer6) n.881_900del n.67+147_67+166del c.508_527del (p.Arg170CysfsTer6) c.148_167del (p.Arg50CysfsTer6) c.592_611del (p.Arg198CysfsTer6) | COSMIC |
| 17 | g.7674888del | CA497925300 | TP53 | c.643del (p.Ser215ValfsTer?) c.247del (p.Ser83ValfsTer?) c.364del (p.Ser122ValfsTer?) c.622del (p.Ser208ValfsTer?) n.899del n.67+165del c.526del (p.Ser176ValfsTer?) c.166del (p.Ser56ValfsTer?) c.610del (p.Ser204ValfsTer?) | COSMIC |
| 17 | g.7674888T>A | CA397840015 | TP53 | c.643A>T (p.Ser215Cys) c.247A>T (p.Ser83Cys) c.364A>T (p.Ser122Cys) c.622A>T (p.Ser208Cys) n.899A>T n.67+165A>T c.526A>T (p.Ser176Cys) c.166A>T (p.Ser56Cys) c.610A>T (p.Ser204Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674888T>C | CA10588671 | TP53 | c.643A>G (p.Ser215Gly) c.247A>G (p.Ser83Gly) c.364A>G (p.Ser122Gly) c.622A>G (p.Ser208Gly) n.899A>G n.67+165A>G c.526A>G (p.Ser176Gly) c.166A>G (p.Ser56Gly) c.610A>G (p.Ser204Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674888T>G | CA397840019 | TP53 | c.643A>C (p.Ser215Arg) c.247A>C (p.Ser83Arg) c.364A>C (p.Ser122Arg) c.622A>C (p.Ser208Arg) n.899A>C n.67+165A>C c.526A>C (p.Ser176Arg) c.166A>C (p.Ser56Arg) c.610A>C (p.Ser204Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674888T= | CA2245954328 | TP53 | c.643A= (p.Ser215=) c.247A= (p.Ser83=) c.364A= (p.Ser122=) c.622A= (p.Ser208=) n.899A= n.67+165A= c.526A= (p.Ser176=) c.166A= (p.Ser56=) c.610A= (p.Ser204=) | |
| 17 | g.7674888dup | CA913190591 | TP53 | c.643dup (p.Ser215LysfsTer7) c.247dup (p.Ser83LysfsTer7) c.364dup (p.Ser122LysfsTer7) c.622dup (p.Ser208LysfsTer7) n.899dup n.67+165dup c.526dup (p.Ser176LysfsTer7) c.166dup (p.Ser56LysfsTer7) c.610dup (p.Ser204LysfsTer7) | ClinVar dbSNP |
| 17 | g.7674889_7674890del | CA645588746 | TP53 | c.642_643del (p.His214GlnfsTer7) c.246_247del (p.His82GlnfsTer7) c.363_364del (p.His121GlnfsTer7) c.621_622del (p.His207GlnfsTer7) n.898_899del n.67+164_67+165del c.525_526del (p.His175GlnfsTer7) c.165_166del (p.His55GlnfsTer7) c.609_610del (p.His203GlnfsTer7) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674888_7674894del | CA645588747 | TP53 | c.637_643del (p.Arg213ValfsTer?) c.241_247del (p.Arg81ValfsTer?) c.358_364del (p.Arg120ValfsTer?) c.616_622del (p.Arg206ValfsTer?) n.893_899del n.67+159_67+165del c.520_526del (p.Arg174ValfsTer?) c.160_166del (p.Arg54ValfsTer?) c.604_610del (p.Arg202ValfsTer?) | COSMIC |
| 17 | g.7674889A= | CA2245954343 | TP53 | c.642T= (p.His214=) c.246T= (p.His82=) c.363T= (p.His121=) c.621T= (p.His207=) n.898T= n.67+164T= c.525T= (p.His175=) c.165T= (p.His55=) c.609T= (p.His203=) | |
| 17 | g.7674889A>C | CA000305 | TP53 | c.642T>G (p.His214Gln) c.246T>G (p.His82Gln) c.363T>G (p.His121Gln) c.621T>G (p.His207Gln) n.898T>G n.67+164T>G c.525T>G (p.His175Gln) c.165T>G (p.His55Gln) c.609T>G (p.His203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7674889A>G | CA002168 | TP53 | c.642T>C (p.His214=) c.246T>C (p.His82=) c.363T>C (p.His121=) c.621T>C (p.His207=) n.898T>C n.67+164T>C c.525T>C (p.His175=) c.165T>C (p.His55=) c.609T>C (p.His203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7674889A>T | CA397840030 | TP53 | c.642T>A (p.His214Gln) c.246T>A (p.His82Gln) c.363T>A (p.His121Gln) c.621T>A (p.His207Gln) n.898T>A n.67+164T>A c.525T>A (p.His175Gln) c.165T>A (p.His55Gln) c.609T>A (p.His203Gln) | dbSNP COSMIC |