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.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.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.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.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.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.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.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 |
| 17 | g.7675125_7675128delinsCC | CA2582342144 | TP53 | c.484_487delinsGG (p.Ile162GlyfsTer18) c.88_91delinsGG (p.Ile30GlyfsTer18) c.205_208delinsGG (p.Ile69GlyfsTer18) c.463_466delinsGG (p.Ile155GlyfsTer18) n.740_743delinsGG c.484_487delinsGG (p.Ile162GlyfsTer?) c.367_370delinsGG (p.Ile123GlyfsTer18) c.7_10delinsGG (p.Ile3GlyfsTer18) c.451_454delinsGG (p.Ile151GlyfsTer18) | ClinVar |
| 17 | g.7675125_7675130del | CA915940817 | TP53 | c.482_487del (p.Ala161_Tyr163delinsAsp) c.86_91del (p.Ala29_Tyr31delinsAsp) c.203_208del (p.Ala68_Tyr70delinsAsp) c.461_466del (p.Ala154_Tyr156delinsAsp) n.738_743del c.365_370del (p.Ala122_Tyr124delinsAsp) c.5_10del (p.Ala2_Tyr4delinsAsp) c.449_454del (p.Ala150_Tyr152delinsAsp) | ClinVar dbSNP |
| 17 | g.7675125_7675131del | CA645589003 | TP53 | c.481_487del (p.Ala161ThrfsTer7) c.85_91del (p.Ala29ThrfsTer7) c.202_208del (p.Ala68ThrfsTer7) c.460_466del (p.Ala154ThrfsTer7) n.737_743del c.481_487del (p.Ala161ThrfsTer?) c.364_370del (p.Ala122ThrfsTer7) c.4_10del (p.Ala2ThrfsTer7) c.448_454del (p.Ala150ThrfsTer7) | COSMIC |
| 17 | g.7675126del | CA2695223092 | TP53 | c.486del (p.Tyr163ThrfsTer7) c.90del (p.Tyr31ThrfsTer7) c.207del (p.Tyr70ThrfsTer7) c.465del (p.Tyr156ThrfsTer7) n.742del c.486del (p.Tyr163ThrfsTer?) c.369del (p.Tyr124ThrfsTer7) c.9del (p.Tyr4ThrfsTer7) c.453del (p.Tyr152ThrfsTer7) | |
| 17 | g.7675126G>A | CA497925628 | TP53 | c.486C>T (p.Ile162=) c.90C>T (p.Ile30=) c.207C>T (p.Ile69=) c.465C>T (p.Ile155=) n.742C>T c.369C>T (p.Ile123=) c.9C>T (p.Ile3=) c.453C>T (p.Ile151=) | dbSNP COSMIC |
| 17 | g.7675126G>C | CA397841930 | TP53 | c.486C>G (p.Ile162Met) c.90C>G (p.Ile30Met) c.207C>G (p.Ile69Met) c.465C>G (p.Ile155Met) n.742C>G c.369C>G (p.Ile123Met) c.9C>G (p.Ile3Met) c.453C>G (p.Ile151Met) | dbSNP COSMIC |
| 17 | g.7675126G>T | CA497925627 | TP53 | c.486C>A (p.Ile162=) c.90C>A (p.Ile30=) c.207C>A (p.Ile69=) c.465C>A (p.Ile155=) n.742C>A c.369C>A (p.Ile123=) c.9C>A (p.Ile3=) c.453C>A (p.Ile151=) | COSMIC |
| 17 | g.7675126dup | CA645589004 | TP53 | c.486dup (p.Tyr163LeufsTer18) c.90dup (p.Tyr31LeufsTer18) c.207dup (p.Tyr70LeufsTer18) c.465dup (p.Tyr156LeufsTer18) n.742dup c.486dup (p.Tyr163LeufsTer?) c.369dup (p.Tyr124LeufsTer18) c.9dup (p.Tyr4LeufsTer18) c.453dup (p.Tyr152LeufsTer18) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675127_7675129dup | CA2573154680 | TP53 | c.484_486dup (p.Ile162_Tyr163insIle) c.88_90dup (p.Ile30_Tyr31insIle) c.205_207dup (p.Ile69_Tyr70insIle) c.463_465dup (p.Ile155_Tyr156insIle) n.740_742dup c.367_369dup (p.Ile123_Tyr124insIle) c.7_9dup (p.Ile3_Tyr4insIle) c.451_453dup (p.Ile151_Tyr152insIle) | ClinVar dbSNP |
| 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.7675126_7675127insC | CA497925629 | TP53 | c.485_486insG (p.Ile162MetfsTer19) c.89_90insG (p.Ile30MetfsTer19) c.206_207insG (p.Ile69MetfsTer19) c.464_465insG (p.Ile155MetfsTer19) n.741_742insG c.485_486insG (p.Ile162MetfsTer?) c.368_369insG (p.Ile123MetfsTer19) c.8_9insG (p.Ile3MetfsTer19) c.452_453insG (p.Ile151MetfsTer19) | |
| 17 | g.7675127del | CA645589008 | TP53 | c.485del (p.Ile162ThrfsTer8) c.89del (p.Ile30ThrfsTer8) c.206del (p.Ile69ThrfsTer8) c.464del (p.Ile155ThrfsTer8) n.741del c.485del (p.Ile162ThrfsTer?) c.368del (p.Ile123ThrfsTer8) c.8del (p.Ile3ThrfsTer8) c.452del (p.Ile151ThrfsTer8) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675127A= | CA2245956439 | TP53 | c.485T= (p.Ile162=) c.89T= (p.Ile30=) c.206T= (p.Ile69=) c.464T= (p.Ile155=) n.741T= c.368T= (p.Ile123=) c.8T= (p.Ile3=) c.452T= (p.Ile151=) | |
| 17 | g.7675127A>C | CA000237 | TP53 | c.485T>G (p.Ile162Ser) c.89T>G (p.Ile30Ser) c.206T>G (p.Ile69Ser) c.464T>G (p.Ile155Ser) n.741T>G c.368T>G (p.Ile123Ser) c.8T>G (p.Ile3Ser) c.452T>G (p.Ile151Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675127A>G | CA397841935 | TP53 | c.485T>C (p.Ile162Thr) c.89T>C (p.Ile30Thr) c.206T>C (p.Ile69Thr) c.464T>C (p.Ile155Thr) n.741T>C c.368T>C (p.Ile123Thr) c.8T>C (p.Ile3Thr) c.452T>C (p.Ile151Thr) | ClinVar dbSNP |
| 17 | g.7675127A>T | CA397841937 | TP53 | c.485T>A (p.Ile162Asn) c.89T>A (p.Ile30Asn) c.206T>A (p.Ile69Asn) c.464T>A (p.Ile155Asn) n.741T>A c.368T>A (p.Ile123Asn) c.8T>A (p.Ile3Asn) c.452T>A (p.Ile151Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675128T>A | CA397841944 | TP53 | c.484A>T (p.Ile162Phe) c.88A>T (p.Ile30Phe) c.205A>T (p.Ile69Phe) c.463A>T (p.Ile155Phe) n.740A>T c.367A>T (p.Ile123Phe) c.7A>T (p.Ile3Phe) c.451A>T (p.Ile151Phe) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675128T>C | CA397841942 | TP53 | c.484A>G (p.Ile162Val) c.88A>G (p.Ile30Val) c.205A>G (p.Ile69Val) c.463A>G (p.Ile155Val) n.740A>G c.367A>G (p.Ile123Val) c.7A>G (p.Ile3Val) c.451A>G (p.Ile151Val) | ClinVar gnomAD v4 COSMIC |
| 17 | g.7675128T>G | CA397841940 | TP53 | c.484A>C (p.Ile162Leu) c.88A>C (p.Ile30Leu) c.205A>C (p.Ile69Leu) c.463A>C (p.Ile155Leu) n.740A>C c.367A>C (p.Ile123Leu) c.7A>C (p.Ile3Leu) c.451A>C (p.Ile151Leu) | |
| 17 | g.7675128T= | CA2245956450 | TP53 | c.484A= (p.Ile162=) c.88A= (p.Ile30=) c.205A= (p.Ile69=) c.463A= (p.Ile155=) n.740A= c.367A= (p.Ile123=) c.7A= (p.Ile3=) c.451A= (p.Ile151=) | |
| 17 | g.7675128_7675131del | CA645589013 | TP53 | c.481_484del (p.Ala161SerfsTer8) c.85_88del (p.Ala29SerfsTer8) c.202_205del (p.Ala68SerfsTer8) c.460_463del (p.Ala154SerfsTer8) n.737_740del c.481_484del (p.Ala161SerfsTer?) c.364_367del (p.Ala122SerfsTer8) c.4_7del (p.Ala2SerfsTer8) c.448_451del (p.Ala150SerfsTer8) | COSMIC |
| 17 | g.7675128_7675140del | CA645589009 | TP53 | c.472_484del (p.Arg158SerfsTer8) c.76_88del (p.Arg26SerfsTer8) c.193_205del (p.Arg65SerfsTer8) c.451_463del (p.Arg151SerfsTer8) n.728_740del c.472_484del (p.Arg158SerfsTer?) c.355_367del (p.Arg119SerfsTer8) c.-6_7del c.439_451del (p.Arg147SerfsTer8) | 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.7675129G>A | CA497925632 | TP53 | c.483C>T (p.Ala161=) c.87C>T (p.Ala29=) c.204C>T (p.Ala68=) c.462C>T (p.Ala154=) n.739C>T c.366C>T (p.Ala122=) c.6C>T (p.Ala2=) c.450C>T (p.Ala150=) | ClinVar dbSNP COSMIC |
| 17 | g.7675129G>C | CA497925631 | TP53 | c.483C>G (p.Ala161=) c.87C>G (p.Ala29=) c.204C>G (p.Ala68=) c.462C>G (p.Ala154=) n.739C>G c.366C>G (p.Ala122=) c.6C>G (p.Ala2=) c.450C>G (p.Ala150=) | dbSNP |