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.7675054_7675099del | CA645588867 | TP53 | c.516_559+2del c.120_163+2del c.237_280+2del c.495_538+2del n.772_815+2del n.24_67+2del c.399_442+2del c.39_82+2del c.483_526+2del | COSMIC |
| 17 | g.7675058_7675103del | CA645588874 | TP53 | c.511_556del (p.Glu171MetfsTer?) c.115_160del (p.Glu39MetfsTer?) c.232_277del (p.Glu78MetfsTer?) c.490_535del (p.Glu164MetfsTer?) n.767_812del n.19_64del c.394_439del (p.Glu132MetfsTer?) c.34_79del (p.Glu12MetfsTer?) c.478_523del (p.Glu160MetfsTer?) | COSMIC |
| 17 | g.7675060_7675112del | CA645588877 | TP53 | c.503_555del (p.His168ArgfsTer23) c.107_159del (p.His36ArgfsTer23) c.224_276del (p.His75ArgfsTer23) c.482_534del (p.His161ArgfsTer23) n.759_811del n.11_63del c.386_438del (p.His129ArgfsTer23) c.26_78del (p.His9ArgfsTer23) c.470_522del (p.His157ArgfsTer23) | COSMIC |
| 17 | g.7675059_7675109del | CA2697552081 | TP53 | c.503_553del (p.His168_Ser185delinsArg) c.107_157del (p.His36_Ser53delinsArg) c.224_274del (p.His75_Ser92delinsArg) c.482_532del (p.His161_Ser178delinsArg) n.759_809del n.11_61del c.386_436del (p.His129_Ser146delinsArg) c.26_76del (p.His9_Ser26delinsArg) c.470_520del (p.His157_Ser174delinsArg) | ClinVar |
| 17 | g.7675075_7675101del | CA645588912 | TP53 | c.514_540del (p.Val172_Glu180del) c.118_144del (p.Val40_Glu48del) c.235_261del (p.Val79_Glu87del) c.493_519del (p.Val165_Glu173del) n.770_796del n.22_48del c.397_423del (p.Val133_Glu141del) c.37_63del (p.Val13_Glu21del) c.481_507del (p.Val161_Glu169del) | COSMIC COSMIC |
| 17 | g.7675075_7675098del | CA2576155460 | TP53 | c.515_538del (p.Val172_His179del) c.119_142del (p.Val40_His47del) c.236_259del (p.Val79_His86del) c.494_517del (p.Val165_His172del) n.771_794del n.23_46del c.398_421del (p.Val133_His140del) c.38_61del (p.Val13_His20del) c.482_505del (p.Val161_His168del) | |
| 17 | g.7675076_7675101del | CA645588924 | TP53 | c.511_536del (p.Glu171Ter) c.115_140del (p.Glu39Ter) c.232_257del (p.Glu78Ter) c.490_515del (p.Glu164Ter) n.767_792del n.19_44del c.394_419del (p.Glu132Ter) c.34_59del (p.Glu12Ter) c.478_503del (p.Glu160Ter) | COSMIC |
| 17 | g.7675080_7675110del | CA645588940 | TP53 | c.502_532del (p.His168ThrfsTer?) c.106_136del (p.His36ThrfsTer?) c.223_253del (p.His75ThrfsTer?) c.481_511del (p.His161ThrfsTer?) n.758_788del n.10_40del c.385_415del (p.His129ThrfsTer?) c.25_55del (p.His9ThrfsTer?) c.469_499del (p.His157ThrfsTer?) | COSMIC |
| 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.7675091_7675099del | CA645588956 | TP53 | c.514_522del (p.Val172_Arg174del) c.118_126del (p.Val40_Arg42del) c.235_243del (p.Val79_Arg81del) c.493_501del (p.Val165_Arg167del) n.770_778del n.22_30del c.397_405del (p.Val133_Arg135del) c.37_45del (p.Val13_Arg15del) c.481_489del (p.Val161_Arg163del) | COSMIC |
| 17 | g.7675092_7675098delinsTCACAAC | CA2245955983 | TP53 | c.514_520delinsGTTGTGA (p.Val172=) c.118_124delinsGTTGTGA (p.Val40=) c.235_241delinsGTTGTGA (p.Val79=) c.493_499delinsGTTGTGA (p.Val165=) n.770_776delinsGTTGTGA n.22_28delinsGTTGTGA c.397_403delinsGTTGTGA (p.Val133=) c.37_43delinsGTTGTGA (p.Val13=) c.481_487delinsGTTGTGA (p.Val161=) | |
| 17 | g.7675095_7675106del | CA2499224973 | TP53 | c.509_520del (p.Thr170_Val173del) c.113_124del (p.Thr38_Val41del) c.230_241del (p.Thr77_Val80del) c.488_499del (p.Thr163_Val166del) n.765_776del n.17_28del c.392_403del (p.Thr131_Val134del) c.32_43del (p.Thr11_Val14del) c.476_487del (p.Thr159_Val162del) | ClinVar dbSNP |
| 17 | g.7675094_7675099del | CA775164032 | TP53 | c.514_519del (p.Val172_Val173del) c.118_123del (p.Val40_Val41del) c.235_240del (p.Val79_Val80del) c.493_498del (p.Val165_Val166del) n.770_775del n.22_27del c.397_402del (p.Val133_Val134del) c.37_42del (p.Val13_Val14del) c.481_486del (p.Val161_Val162del) | dbSNP |
| 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.7675096_7675099dup | CA658824566 | TP53 | c.514_517dup (p.Val173GlyfsTer9) c.118_121dup (p.Val41GlyfsTer9) c.235_238dup (p.Val80GlyfsTer9) c.493_496dup (p.Val166GlyfsTer9) n.770_773dup n.22_25dup c.397_400dup (p.Val134GlyfsTer9) c.37_40dup (p.Val14GlyfsTer9) c.481_484dup (p.Val162GlyfsTer9) | ClinVar dbSNP |
| 17 | g.7675096_7675101del | CA645588960 | TP53 | c.512_517del (p.Glu171_Val172del) c.116_121del (p.Glu39_Val40del) c.233_238del (p.Glu78_Val79del) c.491_496del (p.Glu164_Val165del) n.768_773del n.20_25del c.395_400del (p.Glu132_Val133del) c.35_40del (p.Glu12_Val13del) c.479_484del (p.Glu160_Val161del) | COSMIC |
| 17 | g.7675097del | CA497925603 | TP53 | c.516del (p.Val173Ter) c.120del (p.Val41Ter) c.237del (p.Val80Ter) c.495del (p.Val166Ter) n.772del n.24del c.399del (p.Val134Ter) c.39del (p.Val14Ter) c.483del (p.Val162Ter) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675096_7675103del | CA645588961 | TP53 | c.509_516del (p.Thr170SerfsTer8) c.113_120del (p.Thr38SerfsTer8) c.230_237del (p.Thr77SerfsTer8) c.488_495del (p.Thr163SerfsTer8) n.765_772del n.17_24del c.392_399del (p.Thr131SerfsTer8) c.32_39del (p.Thr11SerfsTer8) c.476_483del (p.Thr159SerfsTer8) | COSMIC |
| 17 | g.7675097A= | CA2245956071 | TP53 | c.515T= (p.Val172=) c.119T= (p.Val40=) c.236T= (p.Val79=) c.494T= (p.Val165=) n.771T= n.23T= c.398T= (p.Val133=) c.38T= (p.Val13=) c.482T= (p.Val161=) | |
| 17 | g.7675097A>C | CA397841550 | TP53 | c.515T>G (p.Val172Gly) c.119T>G (p.Val40Gly) c.236T>G (p.Val79Gly) c.494T>G (p.Val165Gly) n.771T>G n.23T>G c.398T>G (p.Val133Gly) c.38T>G (p.Val13Gly) c.482T>G (p.Val161Gly) | ClinVar dbSNP COSMIC |
| 17 | g.7675097A>G | CA397841553 | TP53 | c.515T>C (p.Val172Ala) c.119T>C (p.Val40Ala) c.236T>C (p.Val79Ala) c.494T>C (p.Val165Ala) n.771T>C n.23T>C c.398T>C (p.Val133Ala) c.38T>C (p.Val13Ala) c.482T>C (p.Val161Ala) | ClinVar dbSNP COSMIC |
| 17 | g.7675097A>T | CA397841557 | TP53 | c.515T>A (p.Val172Asp) c.119T>A (p.Val40Asp) c.236T>A (p.Val79Asp) c.494T>A (p.Val165Asp) n.771T>A n.23T>A c.398T>A (p.Val133Asp) c.38T>A (p.Val13Asp) c.482T>A (p.Val161Asp) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675097_7675101dup | CA193181 | TP53 | c.511_515dup (p.Val173ArgfsTer3) c.115_119dup (p.Val41ArgfsTer3) c.232_236dup (p.Val80ArgfsTer3) c.490_494dup (p.Val166ArgfsTer3) n.767_771dup n.19_23dup c.394_398dup (p.Val134ArgfsTer3) c.34_38dup (p.Val14ArgfsTer3) c.478_482dup (p.Val162ArgfsTer3) | ClinVar dbSNP |
| 17 | g.7675098C>A | CA397841576 | TP53 | c.514G>T (p.Val172Phe) c.118G>T (p.Val40Phe) c.235G>T (p.Val79Phe) c.493G>T (p.Val165Phe) n.770G>T n.22G>T c.397G>T (p.Val133Phe) c.37G>T (p.Val13Phe) c.481G>T (p.Val161Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675098C= | CA2245956086 | TP53 | c.514G= (p.Val172=) c.118G= (p.Val40=) c.235G= (p.Val79=) c.493G= (p.Val165=) n.770G= n.22G= c.397G= (p.Val133=) c.37G= (p.Val13=) c.481G= (p.Val161=) | |
| 17 | g.7675098C>G | CA397841568 | TP53 | c.514G>C (p.Val172Leu) c.118G>C (p.Val40Leu) c.235G>C (p.Val79Leu) c.493G>C (p.Val165Leu) n.770G>C n.22G>C c.397G>C (p.Val133Leu) c.37G>C (p.Val13Leu) c.481G>C (p.Val161Leu) | dbSNP |
| 17 | g.7675098C>T | CA397841571 | TP53 | c.514G>A (p.Val172Ile) c.118G>A (p.Val40Ile) c.235G>A (p.Val79Ile) c.493G>A (p.Val165Ile) n.770G>A n.22G>A c.397G>A (p.Val133Ile) c.37G>A (p.Val13Ile) c.481G>A (p.Val161Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7675099del | CA497925604 | TP53 | c.514del (p.Val172LeufsTer2) c.118del (p.Val40LeufsTer2) c.235del (p.Val79LeufsTer2) c.493del (p.Val165LeufsTer2) n.770del n.22del c.397del (p.Val133LeufsTer2) c.37del (p.Val13LeufsTer2) c.481del (p.Val161LeufsTer2) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675099_7675102del | CA645588962 | TP53 | c.511_514del (p.Glu171LeufsTer2) c.115_118del (p.Glu39LeufsTer2) c.232_235del (p.Glu78LeufsTer2) c.490_493del (p.Glu164LeufsTer2) n.767_770del n.19_22del c.394_397del (p.Glu132LeufsTer2) c.34_37del (p.Glu12LeufsTer2) c.478_481del (p.Glu160LeufsTer2) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675099_7675105del | CA645588963 | TP53 | c.508_514del (p.Thr170LeufsTer2) c.112_118del (p.Thr38LeufsTer2) c.229_235del (p.Thr77LeufsTer2) c.487_493del (p.Thr163LeufsTer2) n.764_770del n.16_22del c.391_397del (p.Thr131LeufsTer2) c.31_37del (p.Thr11LeufsTer2) c.475_481del (p.Thr159LeufsTer2) | COSMIC |
| 17 | g.7675098_7675107del | CA2808380226 | TP53 | c.505_514del (p.Met169LeufsTer2) c.109_118del (p.Met37LeufsTer2) c.226_235del (p.Met76LeufsTer2) c.484_493del (p.Met162LeufsTer2) n.761_770del n.13_22del c.388_397del (p.Met130LeufsTer2) c.28_37del (p.Met10LeufsTer2) c.472_481del (p.Met158LeufsTer2) | |
| 17 | g.7675099C>A | CA397841579 | TP53 | c.513G>T (p.Glu171Asp) c.117G>T (p.Glu39Asp) c.234G>T (p.Glu78Asp) c.492G>T (p.Glu164Asp) n.769G>T n.21G>T c.396G>T (p.Glu132Asp) c.36G>T (p.Glu12Asp) c.480G>T (p.Glu160Asp) | ClinVar dbSNP COSMIC |
| 17 | g.7675099C= | CA2245956098 | TP53 | c.513G= (p.Glu171=) c.117G= (p.Glu39=) c.234G= (p.Glu78=) c.492G= (p.Glu164=) n.769G= n.21G= c.396G= (p.Glu132=) c.36G= (p.Glu12=) c.480G= (p.Glu160=) | |
| 17 | g.7675099C>G | CA397841581 | TP53 | c.513G>C (p.Glu171Asp) c.117G>C (p.Glu39Asp) c.234G>C (p.Glu78Asp) c.492G>C (p.Glu164Asp) n.769G>C n.21G>C c.396G>C (p.Glu132Asp) c.36G>C (p.Glu12Asp) c.480G>C (p.Glu160Asp) | dbSNP COSMIC |
| 17 | g.7675099C>T | CA497925605 | TP53 | c.513G>A (p.Glu171=) c.117G>A (p.Glu39=) c.234G>A (p.Glu78=) c.492G>A (p.Glu164=) n.769G>A n.21G>A c.396G>A (p.Glu132=) c.36G>A (p.Glu12=) c.480G>A (p.Glu160=) | ClinVar dbSNP |
| 17 | g.7675099_7675100delinsGA | CA645588964 | TP53 | c.512_513delinsTC (p.Glu171Val) c.116_117delinsTC (p.Glu39Val) c.233_234delinsTC (p.Glu78Val) c.491_492delinsTC (p.Glu164Val) n.768_769delinsTC n.20_21delinsTC c.395_396delinsTC (p.Glu132Val) c.35_36delinsTC (p.Glu12Val) c.479_480delinsTC (p.Glu160Val) | COSMIC |
| 17 | g.7675099_7675103delinsCTCCG | CA2245956101 | TP53 | c.509_513delinsCGGAG (p.Thr170=) c.113_117delinsCGGAG (p.Thr38=) c.230_234delinsCGGAG (p.Thr77=) c.488_492delinsCGGAG (p.Thr163=) n.765_769delinsCGGAG n.17_21delinsCGGAG c.392_396delinsCGGAG (p.Thr131=) c.32_36delinsCGGAG (p.Thr11=) c.476_480delinsCGGAG (p.Thr159=) | |
| 17 | g.7675100T>A | CA397841593 | TP53 | c.512A>T (p.Glu171Val) c.116A>T (p.Glu39Val) c.233A>T (p.Glu78Val) c.491A>T (p.Glu164Val) n.768A>T n.20A>T c.395A>T (p.Glu132Val) c.35A>T (p.Glu12Val) c.479A>T (p.Glu160Val) | COSMIC |
| 17 | g.7675100T>C | CA397841596 | TP53 | c.512A>G (p.Glu171Gly) c.116A>G (p.Glu39Gly) c.233A>G (p.Glu78Gly) c.491A>G (p.Glu164Gly) n.768A>G n.20A>G c.395A>G (p.Glu132Gly) c.35A>G (p.Glu12Gly) c.479A>G (p.Glu160Gly) | ClinVar COSMIC |
| 17 | g.7675100T>G | CA397841618 | TP53 | c.512A>C (p.Glu171Ala) c.116A>C (p.Glu39Ala) c.233A>C (p.Glu78Ala) c.491A>C (p.Glu164Ala) n.768A>C n.20A>C c.395A>C (p.Glu132Ala) c.35A>C (p.Glu12Ala) c.479A>C (p.Glu160Ala) | COSMIC |
| 17 | g.7675102_7675105del | CA658656581 | TP53 | c.509_512del (p.Thr170ArgfsTer3) c.113_116del (p.Thr38ArgfsTer3) c.230_233del (p.Thr77ArgfsTer3) c.488_491del (p.Thr163ArgfsTer3) n.765_768del n.17_20del c.392_395del (p.Thr131ArgfsTer3) c.32_35del (p.Thr11ArgfsTer3) c.476_479del (p.Thr159ArgfsTer3) | ClinVar dbSNP |
| 17 | g.7675100_7675101insG | CA2697552090 | TP53 | c.511_512insC (p.Glu171AlafsTer10) c.115_116insC (p.Glu39AlafsTer10) c.232_233insC (p.Glu78AlafsTer10) c.490_491insC (p.Glu164AlafsTer10) n.767_768insC n.19_20insC c.394_395insC (p.Glu132AlafsTer10) c.34_35insC (p.Glu12AlafsTer10) c.478_479insC (p.Glu160AlafsTer10) | ClinVar |
| 17 | g.7675101C>A | CA397841623 | TP53 | c.511G>T (p.Glu171Ter) c.115G>T (p.Glu39Ter) c.232G>T (p.Glu78Ter) c.490G>T (p.Glu164Ter) n.767G>T n.19G>T c.394G>T (p.Glu132Ter) c.34G>T (p.Glu12Ter) c.478G>T (p.Glu160Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675101C= | CA2245956117 | TP53 | c.511G= (p.Glu171=) c.115G= (p.Glu39=) c.232G= (p.Glu78=) c.490G= (p.Glu164=) n.767G= n.19G= c.394G= (p.Glu132=) c.34G= (p.Glu12=) c.478G= (p.Glu160=) |