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.7674960_7675141del | CA913203500 | TP53 | c.472_572del c.76_176del c.193_293del c.451_551del n.728_828del c.355_455del c.-6_95del c.439_539del | |
| 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.7675107_7675125del | CA645588972 | TP53 | c.488_506del (p.Tyr163Ter) c.92_110del (p.Tyr31Ter) c.209_227del (p.Tyr70Ter) c.467_485del (p.Tyr156Ter) n.744_762del c.371_389del (p.Tyr124Ter) c.11_29del (p.Tyr4Ter) c.455_473del (p.Tyr152Ter) | COSMIC |
| 17 | g.7675106_7675138del | CA645588973 | TP53 | c.474_506del (p.Ala159_Met169del) c.78_110del (p.Ala27_Met37del) c.195_227del (p.Ala66_Met76del) c.453_485del (p.Ala152_Met162del) n.730_762del c.357_389del (p.Ala120_Met130del) c.-4_29del c.441_473del (p.Ala148_Met158del) | COSMIC |
| 17 | g.7675111_7675135del | CA2573154678 | TP53 | c.479_503del (p.Met160ThrfsTer2) c.83_107del (p.Met28ThrfsTer2) c.200_224del (p.Met67ThrfsTer2) c.458_482del (p.Met153ThrfsTer2) n.735_759del c.362_386del (p.Met121ThrfsTer2) c.2_26del (p.Met1ThrfsTer2) c.446_470del (p.Met149ThrfsTer2) | ClinVar dbSNP |
| 17 | g.7675111_7675137del | CA645588978 | TP53 | c.475_501del (p.Ala159_Gln167del) c.79_105del (p.Ala27_Gln35del) c.196_222del (p.Ala66_Gln74del) c.454_480del (p.Ala152_Gln160del) n.731_757del c.358_384del (p.Ala120_Gln128del) c.-3_24del c.442_468del (p.Ala148_Gln156del) | COSMIC |
| 17 | g.7675115_7675124del | CA645588980 | TP53 | c.491_500del (p.Lys164SerfsTer3) c.95_104del (p.Lys32SerfsTer3) c.212_221del (p.Lys71SerfsTer3) c.470_479del (p.Lys157SerfsTer3) n.747_756del c.374_383del (p.Lys125SerfsTer3) c.14_23del (p.Lys5SerfsTer3) c.458_467del (p.Lys153SerfsTer3) | COSMIC |
| 17 | g.7675117_7675127del | CA645588986 | TP53 | c.487_497del (p.Tyr163ThrfsTer14) c.91_101del (p.Tyr31ThrfsTer14) c.208_218del (p.Tyr70ThrfsTer14) c.466_476del (p.Tyr156ThrfsTer14) n.743_753del c.370_380del (p.Tyr124ThrfsTer14) c.10_20del (p.Tyr4ThrfsTer14) c.454_464del (p.Tyr152ThrfsTer14) | COSMIC |
| 17 | g.7675115_7675131dup | CA915949539 | TP53 | c.481_497dup (p.Gln167ProfsTer9) c.85_101dup (p.Gln35ProfsTer9) c.202_218dup (p.Gln74ProfsTer9) c.460_476dup (p.Gln160ProfsTer9) n.737_753dup c.364_380dup (p.Gln128ProfsTer9) c.4_20dup (p.Gln8ProfsTer9) c.448_464dup (p.Gln156ProfsTer9) | ClinVar dbSNP |
| 17 | g.7675116_7675136del | CA2739265589 | TP53 | c.477_497del (p.Met160_Ser166del) c.81_101del (p.Met28_Ser34del) c.198_218del (p.Met67_Ser73del) c.456_476del (p.Met153_Ser159del) n.733_753del c.360_380del (p.Met121_Ser127del) c.-1_20del c.444_464del (p.Met149_Ser155del) | ClinVar |
| 17 | g.7675117_7675125del | CA645588989 | TP53 | c.488_496del (p.Tyr163_Gln165del) c.92_100del (p.Tyr31_Gln33del) c.209_217del (p.Tyr70_Gln72del) c.467_475del (p.Tyr156_Gln158del) n.744_752del c.371_379del (p.Tyr124_Gln126del) c.11_19del (p.Tyr4_Gln6del) c.455_463del (p.Tyr152_Gln154del) | COSMIC |
| 17 | g.7675117_7675123del | CA2697552095 | TP53 | c.489_495del (p.Lys164HisfsTer4) c.93_99del (p.Lys32HisfsTer4) c.210_216del (p.Lys71HisfsTer4) c.468_474del (p.Lys157HisfsTer4) n.745_751del c.489_495del (p.Tyr163=) c.372_378del (p.Lys125HisfsTer4) c.12_18del (p.Lys5HisfsTer4) c.456_462del (p.Lys153HisfsTer4) | ClinVar |
| 17 | g.7675120_7675123del | CA645588993 | TP53 | c.491_494del (p.Lys164SerfsTer5) c.95_98del (p.Lys32SerfsTer5) c.212_215del (p.Lys71SerfsTer5) c.470_473del (p.Lys157SerfsTer5) n.747_750del c.491_494del (p.Lys164SerfsTer?) c.374_377del (p.Lys125SerfsTer5) c.14_17del (p.Lys5SerfsTer5) c.458_461del (p.Lys153SerfsTer5) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675121_7675131del | CA645588995 | TP53 | c.483_493del (p.Ile162ValfsTer15) c.87_97del (p.Ile30ValfsTer15) c.204_214del (p.Ile69ValfsTer15) c.462_472del (p.Ile155ValfsTer15) n.739_749del c.483_493del (p.Ala161=) c.366_376del (p.Ile123ValfsTer15) c.6_16del (p.Ile3ValfsTer15) c.450_460del (p.Ile151ValfsTer15) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675122del | CA497925622 | TP53 | c.491del (p.Lys164SerfsTer6) c.95del (p.Lys32SerfsTer6) c.212del (p.Lys71SerfsTer6) c.470del (p.Lys157SerfsTer6) n.747del c.491del (p.Lys164SerfsTer?) c.374del (p.Lys125SerfsTer6) c.14del (p.Lys5SerfsTer6) c.458del (p.Lys153SerfsTer6) | ClinVar COSMIC |
| 17 | g.7675122T>A | CA397841916 | TP53 | c.490A>T (p.Lys164Ter) c.94A>T (p.Lys32Ter) c.211A>T (p.Lys71Ter) c.469A>T (p.Lys157Ter) n.746A>T c.373A>T (p.Lys125Ter) c.13A>T (p.Lys5Ter) c.457A>T (p.Lys153Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675122T>C | CA10584591 | TP53 | c.490A>G (p.Lys164Glu) c.94A>G (p.Lys32Glu) c.211A>G (p.Lys71Glu) c.469A>G (p.Lys157Glu) n.746A>G c.373A>G (p.Lys125Glu) c.13A>G (p.Lys5Glu) c.457A>G (p.Lys153Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675122T>G | CA397841914 | TP53 | c.490A>C (p.Lys164Gln) c.94A>C (p.Lys32Gln) c.211A>C (p.Lys71Gln) c.469A>C (p.Lys157Gln) n.746A>C c.373A>C (p.Lys125Gln) c.13A>C (p.Lys5Gln) c.457A>C (p.Lys153Gln) | ClinVar dbSNP COSMIC |
| 17 | g.7675122T= | CA2245956352 | TP53 | c.490A= (p.Lys164=) c.94A= (p.Lys32=) c.211A= (p.Lys71=) c.469A= (p.Lys157=) n.746A= c.373A= (p.Lys125=) c.13A= (p.Lys5=) c.457A= (p.Lys153=) | |
| 17 | g.7675122_7675123delinsTG | CA2245956356 | TP53 | c.489_490delinsCA (p.Tyr163=) c.93_94delinsCA (p.Tyr31=) c.210_211delinsCA (p.Tyr70=) c.468_469delinsCA (p.Tyr156=) n.745_746delinsCA c.372_373delinsCA (p.Tyr124=) c.12_13delinsCA (p.Tyr4=) c.456_457delinsCA (p.Tyr152=) | |
| 17 | g.7675122_7675126delinsTGTAG | CA2245956358 | TP53 | c.486_490delinsCTACA (p.Ile162=) c.90_94delinsCTACA (p.Ile30=) c.207_211delinsCTACA (p.Ile69=) c.465_469delinsCTACA (p.Ile155=) n.742_746delinsCTACA c.369_373delinsCTACA (p.Ile123=) c.9_13delinsCTACA (p.Ile3=) c.453_457delinsCTACA (p.Ile151=) | |
| 17 | g.7675124_7675129del | CA645588998 | TP53 | c.485_490del (p.Ile162_Tyr163del) c.89_94del (p.Ile30_Tyr31del) c.206_211del (p.Ile69_Tyr70del) c.464_469del (p.Ile155_Tyr156del) n.741_746del c.368_373del (p.Ile123_Tyr124del) c.8_13del (p.Ile3_Tyr4del) c.452_457del (p.Ile151_Tyr152del) | COSMIC |
| 17 | g.7675123del | CA497925625 | TP53 | c.489del (p.Tyr163Ter) c.93del (p.Tyr31Ter) c.210del (p.Tyr70Ter) c.468del (p.Tyr156Ter) n.745del c.372del (p.Tyr124Ter) c.12del (p.Tyr4Ter) c.456del (p.Tyr152Ter) | dbSNP COSMIC |
| 17 | g.7675123G>A | CA497925624 | TP53 | c.489C>T (p.Tyr163=) c.93C>T (p.Tyr31=) c.210C>T (p.Tyr70=) c.468C>T (p.Tyr156=) n.745C>T c.372C>T (p.Tyr124=) c.12C>T (p.Tyr4=) c.456C>T (p.Tyr152=) | dbSNP COSMIC |
| 17 | g.7675123G>C | CA397841918 | TP53 | c.489C>G (p.Tyr163Ter) c.93C>G (p.Tyr31Ter) c.210C>G (p.Tyr70Ter) c.468C>G (p.Tyr156Ter) n.745C>G c.372C>G (p.Tyr124Ter) c.12C>G (p.Tyr4Ter) c.456C>G (p.Tyr152Ter) | ClinVar dbSNP COSMIC |
| 17 | g.7675123G= | CA2245956373 | TP53 | c.489C= (p.Tyr163=) c.93C= (p.Tyr31=) c.210C= (p.Tyr70=) c.468C= (p.Tyr156=) n.745C= c.372C= (p.Tyr124=) c.12C= (p.Tyr4=) c.456C= (p.Tyr152=) | |
| 17 | g.7675123G>T | CA397841922 | TP53 | c.489C>A (p.Tyr163Ter) c.93C>A (p.Tyr31Ter) c.210C>A (p.Tyr70Ter) c.468C>A (p.Tyr156Ter) n.745C>A c.372C>A (p.Tyr124Ter) c.12C>A (p.Tyr4Ter) c.456C>A (p.Tyr152Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675123_7675126delinsACAAGCAGTCTACA | CA915949540 | TP53 | c.486_489delinsTGTAGACTGCTTGT (p.Tyr163ValfsTer5) c.90_93delinsTGTAGACTGCTTGT (p.Tyr31ValfsTer5) c.207_210delinsTGTAGACTGCTTGT (p.Tyr70ValfsTer5) c.465_468delinsTGTAGACTGCTTGT (p.Tyr156ValfsTer5) n.742_745delinsTGTAGACTGCTTGT c.369_372delinsTGTAGACTGCTTGT (p.Tyr124ValfsTer5) c.9_12delinsTGTAGACTGCTTGT (p.Tyr4ValfsTer5) c.453_456delinsTGTAGACTGCTTGT (p.Tyr152ValfsTer5) | ClinVar dbSNP |
| 17 | g.7675124_7675126del | CA645588999 | TP53 | c.487_489del (p.Tyr163del) c.91_93del (p.Tyr31del) c.208_210del (p.Tyr70del) c.466_468del (p.Tyr156del) n.743_745del c.370_372del (p.Tyr124del) c.10_12del (p.Tyr4del) c.454_456del (p.Tyr152del) | COSMIC |
| 17 | g.7675124del | CA645369122 | TP53 | c.488del (p.Tyr163SerfsTer7) c.92del (p.Tyr31SerfsTer7) c.209del (p.Tyr70SerfsTer7) c.467del (p.Tyr156SerfsTer7) n.744del c.488del (p.Tyr163SerfsTer?) c.371del (p.Tyr124SerfsTer7) c.11del (p.Tyr4SerfsTer7) c.455del (p.Tyr152SerfsTer7) | |
| 17 | g.7675124T>A | CA397841925 | TP53 | c.488A>T (p.Tyr163Phe) c.92A>T (p.Tyr31Phe) c.209A>T (p.Tyr70Phe) c.467A>T (p.Tyr156Phe) n.744A>T c.371A>T (p.Tyr124Phe) c.11A>T (p.Tyr4Phe) c.455A>T (p.Tyr152Phe) | |
| 17 | g.7675124T>C | CA000240 | TP53 | c.488A>G (p.Tyr163Cys) c.92A>G (p.Tyr31Cys) c.209A>G (p.Tyr70Cys) c.467A>G (p.Tyr156Cys) n.744A>G c.371A>G (p.Tyr124Cys) c.11A>G (p.Tyr4Cys) c.455A>G (p.Tyr152Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675124T>G | CA397841928 | TP53 | c.488A>C (p.Tyr163Ser) c.92A>C (p.Tyr31Ser) c.209A>C (p.Tyr70Ser) c.467A>C (p.Tyr156Ser) n.744A>C c.371A>C (p.Tyr124Ser) c.11A>C (p.Tyr4Ser) c.455A>C (p.Tyr152Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675124T= | CA2245956392 | TP53 | c.488A= (p.Tyr163=) c.92A= (p.Tyr31=) c.209A= (p.Tyr70=) c.467A= (p.Tyr156=) n.744A= c.371A= (p.Tyr124=) c.11A= (p.Tyr4=) c.455A= (p.Tyr152=) | |
| 17 | g.7675124_7675125dup | CA775164180 | TP53 | c.487_488dup (p.Lys164ThrfsTer7) c.91_92dup (p.Lys32ThrfsTer7) c.208_209dup (p.Lys71ThrfsTer7) c.466_467dup (p.Lys157ThrfsTer7) n.743_744dup c.487_488dup (p.Lys164ThrfsTer?) c.370_371dup (p.Lys125ThrfsTer7) c.10_11dup (p.Lys5ThrfsTer7) c.454_455dup (p.Lys153ThrfsTer7) | dbSNP |
| 17 | g.7675125_7675128dup | CA2580094998 | TP53 | c.485_488dup (p.Lys164LeufsTer18) c.89_92dup (p.Lys32LeufsTer18) c.206_209dup (p.Lys71LeufsTer18) c.464_467dup (p.Lys157LeufsTer18) n.741_744dup c.485_488dup (p.Lys164LeufsTer?) c.368_371dup (p.Lys125LeufsTer18) c.8_11dup (p.Lys5LeufsTer18) c.452_455dup (p.Lys153LeufsTer18) | ClinVar |
| 17 | g.7675124_7675130delinsTAGATGG | CA2245956400 | TP53 | c.482_488delinsCCATCTA (p.Ala161=) c.86_92delinsCCATCTA (p.Ala29=) c.203_209delinsCCATCTA (p.Ala68=) c.461_467delinsCCATCTA (p.Ala154=) n.738_744delinsCCATCTA c.365_371delinsCCATCTA (p.Ala122=) c.5_11delinsCCATCTA (p.Ala2=) c.449_455delinsCCATCTA (p.Ala150=) | |
| 17 | g.7675124_7675138delinsGCCCC | CA645589000 | TP53 | c.474_488delinsGGGGC (p.Ala159GlyfsTer8) c.78_92delinsGGGGC (p.Ala27GlyfsTer8) c.195_209delinsGGGGC (p.Ala66GlyfsTer8) c.453_467delinsGGGGC (p.Ala152GlyfsTer8) n.730_744delinsGGGGC c.474_488delinsGGGGC (p.Ala159GlyfsTer?) c.357_371delinsGGGGC (p.Ala120GlyfsTer8) c.-4_11delinsGGGGC c.441_455delinsGGGGC (p.Ala148GlyfsTer8) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675125del | CA497925626 | TP53 | c.487del (p.Tyr163ThrfsTer7) c.91del (p.Tyr31ThrfsTer7) c.208del (p.Tyr70ThrfsTer7) c.466del (p.Tyr156ThrfsTer7) n.743del c.487del (p.Tyr163ThrfsTer?) c.370del (p.Tyr124ThrfsTer7) c.10del (p.Tyr4ThrfsTer7) c.454del (p.Tyr152ThrfsTer7) | COSMIC |
| 17 | g.7675125A= | CA2245956433 | TP53 | c.487T= (p.Tyr163=) c.91T= (p.Tyr31=) c.208T= (p.Tyr70=) c.466T= (p.Tyr156=) n.743T= c.370T= (p.Tyr124=) c.10T= (p.Tyr4=) c.454T= (p.Tyr152=) | |
| 17 | g.7675125A>C | CA000239 | TP53 | c.487T>G (p.Tyr163Asp) c.91T>G (p.Tyr31Asp) c.208T>G (p.Tyr70Asp) c.466T>G (p.Tyr156Asp) n.743T>G c.370T>G (p.Tyr124Asp) c.10T>G (p.Tyr4Asp) c.454T>G (p.Tyr152Asp) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675125A>G | CA16603094 | TP53 | c.487T>C (p.Tyr163His) c.91T>C (p.Tyr31His) c.208T>C (p.Tyr70His) c.466T>C (p.Tyr156His) n.743T>C c.370T>C (p.Tyr124His) c.10T>C (p.Tyr4His) c.454T>C (p.Tyr152His) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675125A>T | CA16603093 | TP53 | c.487T>A (p.Tyr163Asn) c.91T>A (p.Tyr31Asn) c.208T>A (p.Tyr70Asn) c.466T>A (p.Tyr156Asn) n.743T>A c.370T>A (p.Tyr124Asn) c.10T>A (p.Tyr4Asn) c.454T>A (p.Tyr152Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675125_7675127del | CA645589002 | TP53 | c.485_487del (p.Ile162_Tyr163delinsAsn) c.89_91del (p.Ile30_Tyr31delinsAsn) c.206_208del (p.Ile69_Tyr70delinsAsn) c.464_466del (p.Ile155_Tyr156delinsAsn) n.741_743del c.368_370del (p.Ile123_Tyr124delinsAsn) c.8_10del (p.Ile3_Tyr4delinsAsn) c.452_454del (p.Ile151_Tyr152delinsAsn) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |