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.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7675086_7675145del | CA645588950 | TP53 | c.469_528del (p.Val157_Cys176del) c.73_132del (p.Val25_Cys44del) c.190_249del (p.Val64_Cys83del) c.448_507del (p.Val150_Cys169del) n.725_784del c.352_411del (p.Val118_Cys137del) c.-9_51del c.436_495del (p.Val146_Cys165del) | COSMIC |
| 17 | g.7675089_7675167del | CA645588955 | TP53 | c.445_523del (p.Ser149AlafsTer?) c.49_127del (p.Ser17AlafsTer?) c.166_244del (p.Ser56AlafsTer?) c.424_502del (p.Ser142AlafsTer?) n.701_779del c.328_406del (p.Ser110AlafsTer?) c.-33_46del c.412_490del (p.Ser138AlafsTer?) | COSMIC |
| 17 | g.7675093_7675161del | CA645588958 | TP53 | c.451_519del (p.Pro151_Val173del) c.55_123del (p.Pro19_Val41del) c.172_240del (p.Pro58_Val80del) c.430_498del (p.Pro144_Val166del) n.707_775del c.334_402del (p.Pro112_Val134del) c.-27_42del c.418_486del (p.Pro140_Val162del) | COSMIC |
| 17 | g.7675127_7675144del | CA645589006 | TP53 | c.469_486del (p.Val157_Ile162del) c.73_90del (p.Val25_Ile30del) c.190_207del (p.Val64_Ile69del) c.448_465del (p.Val150_Ile155del) n.725_742del c.352_369del (p.Val118_Ile123del) c.-9_9del c.436_453del (p.Val146_Ile151del) | COSMIC |
| 17 | g.7675127_7675147del | CA645589007 | TP53 | c.466_486del (p.Arg156_Ile162del) c.70_90del (p.Arg24_Ile30del) c.187_207del (p.Arg63_Ile69del) c.445_465del (p.Arg149_Ile155del) n.722_742del c.349_369del (p.Arg117_Ile123del) c.-12_9del c.433_453del (p.Arg145_Ile151del) | COSMIC |
| 17 | g.7675128_7675147del | CA645589012 | TP53 | c.465_484del (p.Arg156LeufsTer18) c.69_88del (p.Arg24LeufsTer18) c.186_205del (p.Arg63LeufsTer18) c.444_463del (p.Arg149LeufsTer18) n.721_740del c.465_484del (p.Arg156LeufsTer?) c.348_367del (p.Arg117LeufsTer18) c.-13_7del c.432_451del (p.Arg145LeufsTer18) | COSMIC |
| 17 | g.7675130_7675150del | CA645589011 | TP53 | c.464_484del (p.Thr155_Ala161del) c.68_88del (p.Thr23_Ala29del) c.185_205del (p.Thr62_Ala68del) c.443_463del (p.Thr148_Ala154del) n.720_740del c.347_367del (p.Thr116_Ala122del) c.-14_7del c.431_451del (p.Thr144_Ala150del) | COSMIC |
| 17 | g.7675131_7675148del | CA645589014 | TP53 | c.466_483del (p.Arg156_Ala161del) c.70_87del (p.Arg24_Ala29del) c.187_204del (p.Arg63_Ala68del) c.445_462del (p.Arg149_Ala154del) n.722_739del c.349_366del (p.Arg117_Ala122del) c.-12_6del c.433_450del (p.Arg145_Ala150del) | COSMIC COSMIC |
| 17 | g.7675132_7675145del | CA645589016 | TP53 | c.469_482del (p.Val157HisfsTer19) c.73_86del (p.Val25HisfsTer19) c.190_203del (p.Val64HisfsTer19) c.448_461del (p.Val150HisfsTer19) n.725_738del c.469_482del (p.Val157HisfsTer?) c.352_365del (p.Val118HisfsTer19) c.-9_5del c.436_449del (p.Val146HisfsTer19) | COSMIC |
| 17 | g.7675131_7675143del | CA645589021 | TP53 | c.469_481del (p.Val157ProfsTer9) c.73_85del (p.Val25ProfsTer9) c.190_202del (p.Val64ProfsTer9) c.448_460del (p.Val150ProfsTer9) n.725_737del c.469_481del (p.Val157ProfsTer?) c.352_364del (p.Val118ProfsTer9) c.-9_4del c.436_448del (p.Val146ProfsTer9) | COSMIC |
| 17 | g.7675132_7675143del | CA645589019 | TP53 | c.470_481del (p.Val157_Met160del) c.74_85del (p.Val25_Met28del) c.191_202del (p.Val64_Met67del) c.449_460del (p.Val150_Met153del) n.726_737del c.353_364del (p.Val118_Met121del) c.-8_4del c.437_448del (p.Val146_Met149del) | COSMIC |
| 17 | g.7675136_7675150del | CA2573154681 | TP53 | c.464_478del (p.Thr155_Ala159del) c.68_82del (p.Thr23_Ala27del) c.185_199del (p.Thr62_Ala66del) c.443_457del (p.Thr148_Ala152del) n.720_734del c.347_361del (p.Thr116_Ala120del) c.-14_1del (n.-14_1del) c.431_445del (p.Thr144_Ala148del) | ClinVar dbSNP |
| 17 | g.7675135_7675143delinsGGCGCGGAC | CA2245956532 | TP53 | c.469_477delinsGTCCGCGCC (p.Val157=) c.73_81delinsGTCCGCGCC (p.Val25=) c.190_198delinsGTCCGCGCC (p.Val64=) c.448_456delinsGTCCGCGCC (p.Val150=) n.725_733delinsGTCCGCGCC c.352_360delinsGTCCGCGCC (p.Val118=) c.-9_-1delinsGTCCGCGCC (n.-9_-1delinsGTCCGCGCC) c.436_444delinsGTCCGCGCC (p.Val146=) | |
| 17 | g.7675135_7675144del | CA645589023 | TP53 | c.468_477del (p.Val157TrpfsTer10) c.72_81del (p.Val25TrpfsTer10) c.189_198del (p.Val64TrpfsTer10) c.447_456del (p.Val150TrpfsTer10) n.724_733del c.468_477del (p.Val157TrpfsTer?) c.351_360del (p.Val118TrpfsTer10) c.-10_-1del (n.-10_-1del) c.435_444del (p.Val146TrpfsTer10) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675139_7675146del | CA645589028 | TP53 | c.469_476del (p.Val157HisfsTer21) c.73_80del (p.Val25HisfsTer21) c.190_197del (p.Val64HisfsTer21) c.448_455del (p.Val150HisfsTer21) n.725_732del c.469_476del (p.Val157HisfsTer?) c.352_359del (p.Val118HisfsTer21) c.-9_-2del (n.-9_-2del) c.436_443del (p.Val146HisfsTer21) | ClinVar dbSNP COSMIC |
| 17 | g.7675142_7675147dup | CA658798697 | TP53 | c.470_475dup (p.Arg158_Ala159insValArg) c.74_79dup (p.Arg26_Ala27insValArg) c.191_196dup (p.Arg65_Ala66insValArg) c.449_454dup (p.Arg151_Ala152insValArg) n.726_731dup c.353_358dup (p.Arg119_Ala120insValArg) c.-8_-3dup (n.-8_-3dup) c.437_442dup (p.Arg147_Ala148insValArg) | ClinVar dbSNP |
| 17 | g.7675142_7675147del | CA645589031 | TP53 | c.470_475del (p.Val157_Arg158del) c.74_79del (p.Val25_Arg26del) c.191_196del (p.Val64_Arg65del) c.449_454del (p.Val150_Arg151del) n.726_731del c.353_358del (p.Val118_Arg119del) c.-8_-3del (n.-8_-3del) c.437_442del (p.Val146_Arg147del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675139_7675147del | CA645589034 | TP53 | c.466_474del (p.Arg156_Arg158del) c.70_78del (p.Arg24_Arg26del) c.187_195del (p.Arg63_Arg65del) c.445_453del (p.Arg149_Arg151del) n.722_730del c.349_357del (p.Arg117_Arg119del) c.-12_-4del (n.-12_-4del) c.433_441del (p.Arg145_Arg147del) | ClinVar COSMIC |
| 17 | g.7675142_7675158del | CA645589035 | TP53 | c.458_474del (p.Pro153ArgfsTer22) c.62_78del (p.Pro21ArgfsTer22) c.179_195del (p.Pro60ArgfsTer22) c.437_453del (p.Pro146ArgfsTer22) n.714_730del c.458_474del (p.Pro153ArgfsTer?) c.341_357del (p.Pro114ArgfsTer22) c.-20_-4del (n.-20_-4del) c.425_441del (p.Pro142ArgfsTer22) | COSMIC |
| 17 | g.7675139_7675143del | CA645589038 | TP53 | c.469_473del (p.Val157ArgfsTer22) c.73_77del (p.Val25ArgfsTer22) c.190_194del (p.Val64ArgfsTer22) c.448_452del (p.Val150ArgfsTer22) n.725_729del c.469_473del (p.Val157ArgfsTer?) c.352_356del (p.Val118ArgfsTer22) c.-9_-5del (n.-9_-5del) c.436_440del (p.Val146ArgfsTer22) | COSMIC |
| 17 | g.7675141_7675144dup | CA2499306929 | TP53 | c.470_473dup (p.Ala159ProfsTer23) c.74_77dup (p.Ala27ProfsTer23) c.191_194dup (p.Ala66ProfsTer23) c.449_452dup (p.Ala152ProfsTer23) n.726_729dup c.470_473dup (p.Ala159ProfsTer?) c.353_356dup (p.Ala120ProfsTer23) c.-8_-5dup (n.-8_-5dup) c.437_440dup (p.Ala148ProfsTer23) | |
| 17 | g.7675139_7675152del | CA645589039 | TP53 | c.460_473del (p.Gly154ArgfsTer22) c.64_77del (p.Gly22ArgfsTer22) c.181_194del (p.Gly61ArgfsTer22) c.439_452del (p.Gly147ArgfsTer22) n.716_729del c.460_473del (p.Gly154ArgfsTer?) c.343_356del (p.Gly115ArgfsTer22) c.-18_-5del (n.-18_-5del) c.427_440del (p.Gly143ArgfsTer22) | COSMIC |
| 17 | g.7675140_7675142dup | CA891842259 | TP53 | c.470_472dup (p.Val157_Arg158insLeu) c.74_76dup (p.Val25_Arg26insLeu) c.191_193dup (p.Val64_Arg65insLeu) c.449_451dup (p.Val150_Arg151insLeu) n.726_728dup c.353_355dup (p.Val118_Arg119insLeu) c.-8_-6dup (n.-8_-6dup) c.437_439dup (p.Val146_Arg147insLeu) | |
| 17 | g.7675142_7675148del | CA645589043 | TP53 | c.466_472del (p.Arg156AlafsTer12) c.70_76del (p.Arg24AlafsTer12) c.187_193del (p.Arg63AlafsTer12) c.445_451del (p.Arg149AlafsTer12) n.722_728del c.466_472del (p.Arg156AlafsTer?) c.349_355del (p.Arg117AlafsTer12) c.-12_-6del (n.-12_-6del) c.433_439del (p.Arg145AlafsTer12) | COSMIC |
| 17 | g.7675142_7675144dup | CA645589045 | TP53 | c.469_471dup (p.Val157_Arg158insVal) c.73_75dup (p.Val25_Arg26insVal) c.190_192dup (p.Val64_Arg65insVal) c.448_450dup (p.Val150_Arg151insVal) n.725_727dup c.352_354dup (p.Val118_Arg119insVal) c.-9_-7dup (n.-9_-7dup) c.436_438dup (p.Val146_Arg147insVal) | COSMIC |
| 17 | g.7675142_7675144del | CA645589044 | TP53 | c.469_471del (p.Val157del) c.73_75del (p.Val25del) c.190_192del (p.Val64del) c.448_450del (p.Val150del) n.725_727del c.352_354del (p.Val118del) c.-9_-7del (n.-9_-7del) c.436_438del (p.Val146del) | COSMIC |
| 17 | g.7675142del | CA2635871974 | TP53 | c.470del (p.Val157AlafsTer13) c.74del (p.Val25AlafsTer13) c.191del (p.Val64AlafsTer13) c.449del (p.Val150AlafsTer13) n.726del c.470del (p.Val157AlafsTer?) c.353del (p.Val118AlafsTer13) c.-8del (n.-8del) c.437del (p.Val146AlafsTer13) | gnomAD v4 |
| 17 | g.7675142A= | CA2245956658 | TP53 | c.470T= (p.Val157=) c.74T= (p.Val25=) c.191T= (p.Val64=) c.449T= (p.Val150=) n.726T= c.353T= (p.Val118=) c.-8T= (n.-8T=) c.437T= (p.Val146=) | |
| 17 | g.7675142A>C | CA397842039 | TP53 | c.470T>G (p.Val157Gly) c.74T>G (p.Val25Gly) c.191T>G (p.Val64Gly) c.449T>G (p.Val150Gly) n.726T>G c.353T>G (p.Val118Gly) c.-8T>G (n.-8T>G) c.437T>G (p.Val146Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675142A>G | CA397842041 | TP53 | c.470T>C (p.Val157Ala) c.74T>C (p.Val25Ala) c.191T>C (p.Val64Ala) c.449T>C (p.Val150Ala) n.726T>C c.353T>C (p.Val118Ala) c.-8T>C (n.-8T>C) c.437T>C (p.Val146Ala) | ClinVar dbSNP COSMIC |
| 17 | g.7675142A>T | CA397842047 | TP53 | c.470T>A (p.Val157Asp) c.74T>A (p.Val25Asp) c.191T>A (p.Val64Asp) c.449T>A (p.Val150Asp) n.726T>A c.353T>A (p.Val118Asp) c.-8T>A (n.-8T>A) c.437T>A (p.Val146Asp) | ClinVar dbSNP COSMIC |
| 17 | g.7675142_7675149del | CA645589046 | TP53 | c.463_470del (p.Thr155ProfsTer23) c.67_74del (p.Thr23ProfsTer23) c.184_191del (p.Thr62ProfsTer23) c.442_449del (p.Thr148ProfsTer23) n.719_726del c.463_470del (p.Thr155ProfsTer?) c.346_353del (p.Thr116ProfsTer23) c.-15_-8del (n.-15_-8del) c.430_437del (p.Thr144ProfsTer23) | COSMIC |
| 17 | g.7675143_7675171del | CA645589047 | TP53 | c.442_470del (p.Asp148ProfsTer23) c.46_74del (p.Asp16ProfsTer23) c.163_191del (p.Asp55ProfsTer23) c.421_449del (p.Asp141ProfsTer23) n.698_726del c.442_470del (p.Asp148ProfsTer?) c.325_353del (p.Asp109ProfsTer23) c.-36_-8del (n.-36_-8del) c.409_437del (p.Asp137ProfsTer23) | COSMIC |
| 17 | g.7675142_7675143insG | CA645589055 | TP53 | c.469_470insC (p.Val157AlafsTer24) c.73_74insC (p.Val25AlafsTer24) c.190_191insC (p.Val64AlafsTer24) c.448_449insC (p.Val150AlafsTer24) n.725_726insC c.469_470insC (p.Val157AlafsTer?) c.352_353insC (p.Val118AlafsTer24) c.-9_-8insC (n.-9_-8insC) c.436_437insC (p.Val146AlafsTer24) | COSMIC COSMIC |
| 17 | g.7675142_7675143insGCG | CA645589054 | TP53 | c.469_470insCGC (p.Val157delinsAlaLeu) c.73_74insCGC (p.Val25delinsAlaLeu) c.190_191insCGC (p.Val64delinsAlaLeu) c.448_449insCGC (p.Val150delinsAlaLeu) n.725_726insCGC c.352_353insCGC (p.Val118delinsAlaLeu) c.-9_-8insCGC (n.-9_-8insCGC) c.436_437insCGC (p.Val146delinsAlaLeu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675143del | CA645589051 | TP53 | c.469del (p.Val157SerfsTer13) c.73del (p.Val25SerfsTer13) c.190del (p.Val64SerfsTer13) c.448del (p.Val150SerfsTer13) n.725del c.469del (p.Val157SerfsTer?) c.352del (p.Val118SerfsTer13) c.-9del (n.-9del) c.436del (p.Val146SerfsTer13) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675143C>A | CA000222 | TP53 | c.469G>T (p.Val157Phe) c.73G>T (p.Val25Phe) c.190G>T (p.Val64Phe) c.448G>T (p.Val150Phe) n.725G>T c.352G>T (p.Val118Phe) c.-9G>T (n.-9G>T) c.436G>T (p.Val146Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675143C= | CA2245956685 | TP53 | c.469G= (p.Val157=) c.73G= (p.Val25=) c.190G= (p.Val64=) c.448G= (p.Val150=) n.725G= c.352G= (p.Val118=) c.-9G= (n.-9G=) c.436G= (p.Val146=) | |
| 17 | g.7675143C>G | CA397842052 | TP53 | c.469G>C (p.Val157Leu) c.73G>C (p.Val25Leu) c.190G>C (p.Val64Leu) c.448G>C (p.Val150Leu) n.725G>C c.352G>C (p.Val118Leu) c.-9G>C (n.-9G>C) c.436G>C (p.Val146Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7675143C>T | CA000220 | TP53 | c.469G>A (p.Val157Ile) c.73G>A (p.Val25Ile) c.190G>A (p.Val64Ile) c.448G>A (p.Val150Ile) n.725G>A c.352G>A (p.Val118Ile) c.-9G>A (n.-9G>A) c.436G>A (p.Val146Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675143dup | CA497925646 | TP53 | c.469dup (p.Val157GlyfsTer24) c.73dup (p.Val25GlyfsTer24) c.190dup (p.Val64GlyfsTer24) c.448dup (p.Val150GlyfsTer24) n.725dup c.469dup (p.Val157GlyfsTer?) c.352dup (p.Val118GlyfsTer24) c.-9dup (n.-9dup) c.436dup (p.Val146GlyfsTer24) | |
| 17 | g.7675143_7675146delinsGGA | CA645589057 | TP53 | c.466_469delinsTCC (p.Arg156SerfsTer14) c.70_73delinsTCC (p.Arg24SerfsTer14) c.187_190delinsTCC (p.Arg63SerfsTer14) c.445_448delinsTCC (p.Arg149SerfsTer14) n.722_725delinsTCC c.466_469delinsTCC (p.Arg156SerfsTer?) c.349_352delinsTCC (p.Arg117SerfsTer14) c.-12_-9delinsTCC (n.-12_-9delinsTCC) c.433_436delinsTCC (p.Arg145SerfsTer14) | COSMIC |
| 17 | g.7675145_7675146del | CA645589050 | TP53 | c.468_469del (p.Val157ProfsTer23) c.72_73del (p.Val25ProfsTer23) c.189_190del (p.Val64ProfsTer23) c.447_448del (p.Val150ProfsTer23) n.724_725del c.468_469del (p.Val157ProfsTer?) c.351_352del (p.Val118ProfsTer23) c.-10_-9del (n.-10_-9del) c.435_436del (p.Val146ProfsTer23) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675147_7675148insCCGCGG | CA645589056 | TP53 | c.469_470insGCCGCG (p.Arg156_Val157insGlyArg) c.73_74insGCCGCG (p.Arg24_Val25insGlyArg) c.190_191insGCCGCG (p.Arg63_Val64insGlyArg) c.448_449insGCCGCG (p.Arg149_Val150insGlyArg) n.725_726insGCCGCG c.352_353insGCCGCG (p.Arg117_Val118insGlyArg) c.-9_-8insGCCGCG (n.-9_-8insGCCGCG) c.436_437insGCCGCG (p.Arg145_Val146insGlyArg) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675143_7675148del | CA645589052 | TP53 | c.464_469del (p.Thr155_Val157delinsIle) c.68_73del (p.Thr23_Val25delinsIle) c.185_190del (p.Thr62_Val64delinsIle) c.443_448del (p.Thr148_Val150delinsIle) n.720_725del c.347_352del (p.Thr116_Val118delinsIle) c.-14_-9del (n.-14_-9del) c.431_436del (p.Thr144_Val146delinsIle) | COSMIC |
| 17 | g.7675143_7675149delinsCGCGGGT | CA2245956692 | TP53 | c.463_469delinsACCCGCG (p.Thr155=) c.67_73delinsACCCGCG (p.Thr23=) c.184_190delinsACCCGCG (p.Thr62=) c.442_448delinsACCCGCG (p.Thr148=) n.719_725delinsACCCGCG c.346_352delinsACCCGCG (p.Thr116=) c.-15_-9delinsACCCGCG (n.-15_-9delinsACCCGCG) c.430_436delinsACCCGCG (p.Thr144=) |