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.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.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.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.7675102_7675111del | CA645588965 | TP53 | c.502_511del (p.His168ArgfsTer3) c.106_115del (p.His36ArgfsTer3) c.223_232del (p.His75ArgfsTer3) c.481_490del (p.His161ArgfsTer3) n.758_767del n.10_19del c.385_394del (p.His129ArgfsTer3) c.25_34del (p.His9ArgfsTer3) c.469_478del (p.His157ArgfsTer3) | COSMIC |
| 17 | g.7675104_7675110del | CA645588967 | TP53 | c.503_509del (p.His168ArgfsTer4) c.107_113del (p.His36ArgfsTer4) c.224_230del (p.His75ArgfsTer4) c.482_488del (p.His161ArgfsTer4) n.759_765del n.11_17del c.386_392del (p.His129ArgfsTer4) c.26_32del (p.His9ArgfsTer4) c.470_476del (p.His157ArgfsTer4) | COSMIC |
| 17 | g.7675105_7675109delinsAATGA | CA645588970 | TP53 | c.503_507delinsTCATT (p.His168_Met169delinsLeuIle) c.107_111delinsTCATT (p.His36_Met37delinsLeuIle) c.224_228delinsTCATT (p.His75_Met76delinsLeuIle) c.482_486delinsTCATT (p.His161_Met162delinsLeuIle) n.759_763delinsTCATT n.11_15delinsTCATT c.386_390delinsTCATT (p.His129_Met130delinsLeuIle) c.26_30delinsTCATT (p.His9_Met10delinsLeuIle) c.470_474delinsTCATT (p.His157_Met158delinsLeuIle) | COSMIC |
| 17 | g.7675106_7675120del | CA645588971 | TP53 | c.493_507del (p.Gln165_Met169del) c.97_111del (p.Gln33_Met37del) c.214_228del (p.Gln72_Met76del) c.472_486del (p.Gln158_Met162del) n.749_763del c.376_390del (p.Gln126_Met130del) c.16_30del (p.Gln6_Met10del) c.460_474del (p.Gln154_Met158del) | 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_7675115del | CA645588974 | TP53 | c.501_505del (p.Gln167HisfsTer12) c.105_109del (p.Gln35HisfsTer12) c.222_226del (p.Gln74HisfsTer12) c.480_484del (p.Gln160HisfsTer12) n.757_761del n.9_13del c.384_388del (p.Gln128HisfsTer12) c.24_28del (p.Gln8HisfsTer12) c.468_472del (p.Gln156HisfsTer12) | gnomAD v4 COSMIC |
| 17 | g.7675108del | CA497925609 | TP53 | c.504del (p.His168GlnfsTer2) c.108del (p.His36GlnfsTer2) c.225del (p.His75GlnfsTer2) c.483del (p.His161GlnfsTer2) n.760del n.12del c.387del (p.His129GlnfsTer2) c.27del (p.His9GlnfsTer2) c.471del (p.His157GlnfsTer2) | COSMIC |
| 17 | g.7675108G>A | CA002473 | TP53 | c.504C>T (p.His168=) c.108C>T (p.His36=) c.225C>T (p.His75=) c.483C>T (p.His161=) n.760C>T n.12C>T c.387C>T (p.His129=) c.27C>T (p.His9=) c.471C>T (p.His157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7675108G>C | CA397841738 | TP53 | c.504C>G (p.His168Gln) c.108C>G (p.His36Gln) c.225C>G (p.His75Gln) c.483C>G (p.His161Gln) n.760C>G n.12C>G c.387C>G (p.His129Gln) c.27C>G (p.His9Gln) c.471C>G (p.His157Gln) | ClinVar dbSNP |
| 17 | g.7675108G= | CA2245956196 | TP53 | c.504C= (p.His168=) c.108C= (p.His36=) c.225C= (p.His75=) c.483C= (p.His161=) n.760C= n.12C= c.387C= (p.His129=) c.27C= (p.His9=) c.471C= (p.His157=) | |
| 17 | g.7675108G>T | CA397841741 | TP53 | c.504C>A (p.His168Gln) c.108C>A (p.His36Gln) c.225C>A (p.His75Gln) c.483C>A (p.His161Gln) n.760C>A n.12C>A c.387C>A (p.His129Gln) c.27C>A (p.His9Gln) c.471C>A (p.His157Gln) | COSMIC |
| 17 | g.7675108_7675117delinsGTGCTGTGAC | CA2245956197 | TP53 | c.495_504delinsGTCACAGCAC (p.Gln165=) c.99_108delinsGTCACAGCAC (p.Gln33=) c.216_225delinsGTCACAGCAC (p.Gln72=) c.474_483delinsGTCACAGCAC (p.Gln158=) n.751_760delinsGTCACAGCAC n.3_12delinsGTCACAGCAC c.378_387delinsGTCACAGCAC (p.Gln126=) c.18_27delinsGTCACAGCAC (p.Gln6=) c.462_471delinsGTCACAGCAC (p.Gln154=) | |
| 17 | g.7675109del | CA497925610 | TP53 | c.503del (p.His168ProfsTer2) c.107del (p.His36ProfsTer2) c.224del (p.His75ProfsTer2) c.482del (p.His161ProfsTer2) n.759del n.11del c.386del (p.His129ProfsTer2) c.26del (p.His9ProfsTer2) c.470del (p.His157ProfsTer2) | COSMIC |
| 17 | g.7675109T>A | CA397841747 | TP53 | c.503A>T (p.His168Leu) c.107A>T (p.His36Leu) c.224A>T (p.His75Leu) c.482A>T (p.His161Leu) n.759A>T n.11A>T c.386A>T (p.His129Leu) c.26A>T (p.His9Leu) c.470A>T (p.His157Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675109T>C | CA287488569 | TP53 | c.503A>G (p.His168Arg) c.107A>G (p.His36Arg) c.224A>G (p.His75Arg) c.482A>G (p.His161Arg) n.759A>G n.11A>G c.386A>G (p.His129Arg) c.26A>G (p.His9Arg) c.470A>G (p.His157Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675109T>G | CA397841765 | TP53 | c.503A>C (p.His168Pro) c.107A>C (p.His36Pro) c.224A>C (p.His75Pro) c.482A>C (p.His161Pro) n.759A>C n.11A>C c.386A>C (p.His129Pro) c.26A>C (p.His9Pro) c.470A>C (p.His157Pro) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675109T= | CA2245956211 | TP53 | c.503A= (p.His168=) c.107A= (p.His36=) c.224A= (p.His75=) c.482A= (p.His161=) n.759A= n.11A= c.386A= (p.His129=) c.26A= (p.His9=) c.470A= (p.His157=) | |
| 17 | g.7675109dup | CA2697552091 | TP53 | c.503dup (p.His168GlnfsTer13) c.107dup (p.His36GlnfsTer13) c.224dup (p.His75GlnfsTer13) c.482dup (p.His161GlnfsTer13) n.759dup n.11dup c.386dup (p.His129GlnfsTer13) c.26dup (p.His9GlnfsTer13) c.470dup (p.His157GlnfsTer13) | ClinVar |
| 17 | g.7675109_7675113delinsAGGTA | CA645588976 | TP53 | c.499_503delinsTACCT (p.Gln167_His168delinsTyrLeu) c.103_107delinsTACCT (p.Gln35_His36delinsTyrLeu) c.220_224delinsTACCT (p.Gln74_His75delinsTyrLeu) c.478_482delinsTACCT (p.Gln160_His161delinsTyrLeu) n.755_759delinsTACCT n.7_11delinsTACCT c.382_386delinsTACCT (p.Gln128_His129delinsTyrLeu) c.22_26delinsTACCT (p.Gln8_His9delinsTyrLeu) c.466_470delinsTACCT (p.Gln156_His157delinsTyrLeu) | COSMIC |
| 17 | g.7675111_7675113del | CA645588975 | TP53 | c.501_503del (p.Gln167del) c.105_107del (p.Gln35del) c.222_224del (p.Gln74del) c.480_482del (p.Gln160del) n.757_759del n.9_11del c.384_386del (p.Gln128del) c.24_26del (p.Gln8del) c.468_470del (p.Gln156del) | COSMIC |
| 17 | g.7675113_7675121del | CA916081929 | TP53 | c.495_503del (p.Gln165_Gln167del) c.99_107del (p.Gln33_Gln35del) c.216_224del (p.Gln72_Gln74del) c.474_482del (p.Gln158_Gln160del) n.751_759del c.378_386del (p.Gln126_Gln128del) c.18_26del (p.Gln6_Gln8del) c.462_470del (p.Gln154_Gln156del) | ClinVar dbSNP |
| 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.7675110G>A | CA397841770 | TP53 | c.502C>T (p.His168Tyr) c.106C>T (p.His36Tyr) c.223C>T (p.His75Tyr) c.481C>T (p.His161Tyr) n.758C>T n.10C>T c.385C>T (p.His129Tyr) c.25C>T (p.His9Tyr) c.469C>T (p.His157Tyr) | COSMIC |
| 17 | g.7675110G>C | CA397841780 | TP53 | c.502C>G (p.His168Asp) c.106C>G (p.His36Asp) c.223C>G (p.His75Asp) c.481C>G (p.His161Asp) n.758C>G n.10C>G c.385C>G (p.His129Asp) c.25C>G (p.His9Asp) c.469C>G (p.His157Asp) | COSMIC |
| 17 | g.7675110G>T | CA397841776 | TP53 | c.502C>A (p.His168Asn) c.106C>A (p.His36Asn) c.223C>A (p.His75Asn) c.481C>A (p.His161Asn) n.758C>A n.10C>A c.385C>A (p.His129Asn) c.25C>A (p.His9Asn) c.469C>A (p.His157Asn) | ClinVar COSMIC |
| 17 | g.7675110_7675111delinsCA | CA645588977 | TP53 | c.501_502delinsTG (p.Gln167_His168delinsHisAsp) c.105_106delinsTG (p.Gln35_His36delinsHisAsp) c.222_223delinsTG (p.Gln74_His75delinsHisAsp) c.480_481delinsTG (p.Gln160_His161delinsHisAsp) n.757_758delinsTG n.9_10delinsTG c.384_385delinsTG (p.Gln128_His129delinsHisAsp) c.24_25delinsTG (p.Gln8_His9delinsHisAsp) c.468_469delinsTG (p.Gln156_His157delinsHisAsp) | COSMIC |
| 17 | g.7675110_7675111delinsGC | CA2245956219 | TP53 | c.501_502delinsGC (p.Gln167=) c.105_106delinsGC (p.Gln35=) c.222_223delinsGC (p.Gln74=) c.480_481delinsGC (p.Gln160=) n.757_758delinsGC n.9_10delinsGC c.384_385delinsGC (p.Gln128=) c.24_25delinsGC (p.Gln8=) c.468_469delinsGC (p.Gln156=) | |
| 17 | g.7675110_7675115dup | CA2740097773 | TP53 | c.497_502dup (p.Gln167_His168insProGln) c.101_106dup (p.Gln35_His36insProGln) c.218_223dup (p.Gln74_His75insProGln) c.476_481dup (p.Gln160_His161insProGln) n.753_758dup n.5_10dup c.380_385dup (p.Gln128_His129insProGln) c.20_25dup (p.Gln8_His9insProGln) c.464_469dup (p.Gln156_His157insProGln) | |
| 17 | g.7675111del | CA497925612 | TP53 | c.501del (p.Gln167HisfsTer3) c.105del (p.Gln35HisfsTer3) c.222del (p.Gln74HisfsTer3) c.480del (p.Gln160HisfsTer3) n.757del n.9del c.384del (p.Gln128HisfsTer3) c.24del (p.Gln8HisfsTer3) c.468del (p.Gln156HisfsTer3) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675111C>A | CA397841792 | TP53 | c.501G>T (p.Gln167His) c.105G>T (p.Gln35His) c.222G>T (p.Gln74His) c.480G>T (p.Gln160His) n.757G>T n.9G>T c.384G>T (p.Gln128His) c.24G>T (p.Gln8His) c.468G>T (p.Gln156His) | COSMIC |
| 17 | g.7675111C>G | CA397841795 | TP53 | c.501G>C (p.Gln167His) c.105G>C (p.Gln35His) c.222G>C (p.Gln74His) c.480G>C (p.Gln160His) n.757G>C n.9G>C c.384G>C (p.Gln128His) c.24G>C (p.Gln8His) c.468G>C (p.Gln156His) | COSMIC |
| 17 | g.7675111C>T | CA497925611 | TP53 | c.501G>A (p.Gln167=) c.105G>A (p.Gln35=) c.222G>A (p.Gln74=) c.480G>A (p.Gln160=) n.757G>A n.9G>A c.384G>A (p.Gln128=) c.24G>A (p.Gln8=) c.468G>A (p.Gln156=) | ClinVar dbSNP COSMIC |
| 17 | g.7675114_7675119del | CA2573154679 | TP53 | c.496_501del (p.Ser166_Gln167del) c.100_105del (p.Ser34_Gln35del) c.217_222del (p.Ser73_Gln74del) c.475_480del (p.Ser159_Gln160del) n.752_757del n.4_9del c.379_384del (p.Ser127_Gln128del) c.19_24del (p.Ser7_Gln8del) c.463_468del (p.Ser155_Gln156del) | 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.7675112del | CA497925613 | TP53 | c.500del (p.Gln167ArgfsTer3) c.104del (p.Gln35ArgfsTer3) c.221del (p.Gln74ArgfsTer3) c.479del (p.Gln160ArgfsTer3) n.756del n.8del c.383del (p.Gln128ArgfsTer3) c.23del (p.Gln8ArgfsTer3) c.467del (p.Gln156ArgfsTer3) | COSMIC |
| 17 | g.7675112T>A | CA397841801 | TP53 | c.500A>T (p.Gln167Leu) c.104A>T (p.Gln35Leu) c.221A>T (p.Gln74Leu) c.479A>T (p.Gln160Leu) n.756A>T n.8A>T c.383A>T (p.Gln128Leu) c.23A>T (p.Gln8Leu) c.467A>T (p.Gln156Leu) | dbSNP COSMIC |
| 17 | g.7675112T>C | CA397841804 | TP53 | c.500A>G (p.Gln167Arg) c.104A>G (p.Gln35Arg) c.221A>G (p.Gln74Arg) c.479A>G (p.Gln160Arg) n.756A>G n.8A>G c.383A>G (p.Gln128Arg) c.23A>G (p.Gln8Arg) c.467A>G (p.Gln156Arg) | ClinVar dbSNP COSMIC |
| 17 | g.7675112T>G | CA397841806 | TP53 | c.500A>C (p.Gln167Pro) c.104A>C (p.Gln35Pro) c.221A>C (p.Gln74Pro) c.479A>C (p.Gln160Pro) n.756A>C n.8A>C c.383A>C (p.Gln128Pro) c.23A>C (p.Gln8Pro) c.467A>C (p.Gln156Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |