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.7675023_7675070del | CA645588861 | TP53 | c.546_559+34del c.150_163+34del c.267_280+34del c.525_538+34del n.802_815+34del n.54_67+34del c.429_442+34del c.69_82+34del c.513_526+34del | COSMIC |
| 17 | g.7675038_7675064del | CA645588863 | TP53 | c.548_559+15del c.152_163+15del c.269_280+15del c.527_538+15del n.804_815+15del n.56_67+15del c.431_442+15del c.71_82+15del c.515_526+15del | COSMIC |
| 17 | g.7675046_7675070del | CA2581931361 | TP53 | c.546_559+11del c.150_163+11del c.267_280+11del c.525_538+11del n.802_815+11del n.54_67+11del c.429_442+11del c.69_82+11del c.513_526+11del | |
| 17 | g.7675045_7675064dup | CA1139665129 | TP53 | c.549_559+9dup c.153_163+9dup c.270_280+9dup c.528_538+9dup n.805_815+9dup n.57_67+9dup c.432_442+9dup c.72_82+9dup c.516_526+9dup | ClinVar dbSNP |
| 17 | g.7675047_7675090delinsGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGC | CA2245955447 | TP53 | c.522_559+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.126_163+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.243_280+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.501_538+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC n.778_815+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC n.30_67+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.405_442+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.45_82+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.489_526+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC | |
| 17 | g.7675053_7675095del | CA658798694 | TP53 | c.522_559+5del c.126_163+5del c.243_280+5del c.501_538+5del n.778_815+5del n.30_67+5del c.405_442+5del c.45_82+5del c.489_526+5del | ClinVar dbSNP |
| 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.7675053_7675072del | CA2580094982 | TP53 | c.541_559+1del c.145_163+1del c.262_280+1del c.520_538+1del n.797_815+1del n.49_67+1del c.424_442+1del c.64_82+1del c.508_526+1del | ClinVar |
| 17 | g.7675053_7675064del | CA645588870 | TP53 | c.548_559del (p.Ser183_Gly187delinsCys) c.152_163del (p.Ser51_Gly55delinsCys) c.269_280del (p.Ser90_Gly94delinsCys) c.527_538del (p.Ser176_Gly180delinsCys) n.804_815del n.56_67del c.431_442del (p.Ser144_Gly148delinsCys) c.71_82del (p.Ser24_Gly28delinsCys) c.515_526del (p.Ser172_Gly176delinsCys) | COSMIC |
| 17 | g.7675057_7675062del | CA645588871 | TP53 | c.553_558del (p.Ser185_Asp186del) c.157_162del (p.Ser53_Asp54del) c.274_279del (p.Ser92_Asp93del) c.532_537del (p.Ser178_Asp179del) n.809_814del n.61_66del c.436_441del (p.Ser146_Asp147del) c.76_81del (p.Ser26_Asp27del) c.520_525del (p.Ser174_Asp175del) | 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.7675060_7675063del | CA645588880 | TP53 | c.551_554del (p.Asp184AlafsTer?) c.155_158del (p.Asp52AlafsTer?) c.272_275del (p.Asp91AlafsTer?) c.530_533del (p.Asp177AlafsTer?) n.807_810del n.59_62del c.434_437del (p.Asp145AlafsTer?) c.74_77del (p.Asp25AlafsTer?) c.518_521del (p.Asp173AlafsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675058_7675095del | CA645588881 | TP53 | c.517_554del (p.Val173ArgfsTer23) c.121_158del (p.Val41ArgfsTer23) c.238_275del (p.Val80ArgfsTer23) c.496_533del (p.Val166ArgfsTer23) n.773_810del n.25_62del c.400_437del (p.Val134ArgfsTer23) c.40_77del (p.Val14ArgfsTer23) c.484_521del (p.Val162ArgfsTer23) | 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.7675060_7675077del | CA891842249 | TP53 | c.535_552del (p.His179_Asp184del) c.139_156del (p.His47_Asp52del) c.256_273del (p.His86_Asp91del) c.514_531del (p.His172_Asp177del) n.791_808del n.43_60del c.418_435del (p.His140_Asp145del) c.58_75del (p.His20_Asp25del) c.502_519del (p.His168_Asp173del) | |
| 17 | g.7675060_7675091del | CA645588883 | TP53 | c.521_552del (p.Arg174LysfsTer24) c.125_156del (p.Arg42LysfsTer24) c.242_273del (p.Arg81LysfsTer24) c.500_531del (p.Arg167LysfsTer24) n.777_808del n.29_60del c.404_435del (p.Arg135LysfsTer24) c.44_75del (p.Arg15LysfsTer24) c.488_519del (p.Arg163LysfsTer24) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675063_7675074del | CA645588884 | TP53 | c.540_551del (p.Glu180_Ser183del) c.144_155del (p.Glu48_Ser51del) c.261_272del (p.Glu87_Ser90del) c.519_530del (p.Glu173_Ser176del) n.796_807del n.48_59del c.423_434del (p.Glu141_Ser144del) c.63_74del (p.Glu21_Ser24del) c.507_518del (p.Glu169_Ser172del) | COSMIC |
| 17 | g.7675062del | CA497925571 | TP53 | c.550del (p.Asp184IlefsTer?) c.154del (p.Asp52IlefsTer?) c.271del (p.Asp91IlefsTer?) c.529del (p.Asp177IlefsTer?) n.806del n.58del c.433del (p.Asp145IlefsTer?) c.73del (p.Asp25IlefsTer?) c.517del (p.Asp173IlefsTer?) | ClinVar COSMIC |
| 17 | g.7675062C>A | CA397841197 | TP53 | c.550G>T (p.Asp184Tyr) c.154G>T (p.Asp52Tyr) c.271G>T (p.Asp91Tyr) c.529G>T (p.Asp177Tyr) n.806G>T n.58G>T c.433G>T (p.Asp145Tyr) c.73G>T (p.Asp25Tyr) c.517G>T (p.Asp173Tyr) | dbSNP COSMIC |
| 17 | g.7675062C= | CA2245955525 | TP53 | c.550G= (p.Asp184=) c.154G= (p.Asp52=) c.271G= (p.Asp91=) c.529G= (p.Asp177=) n.806G= n.58G= c.433G= (p.Asp145=) c.73G= (p.Asp25=) c.517G= (p.Asp173=) | |
| 17 | g.7675062C>G | CA397841195 | TP53 | c.550G>C (p.Asp184His) c.154G>C (p.Asp52His) c.271G>C (p.Asp91His) c.529G>C (p.Asp177His) n.806G>C n.58G>C c.433G>C (p.Asp145His) c.73G>C (p.Asp25His) c.517G>C (p.Asp173His) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675062C>T | CA287488513 | TP53 | c.550G>A (p.Asp184Asn) c.154G>A (p.Asp52Asn) c.271G>A (p.Asp91Asn) c.529G>A (p.Asp177Asn) n.806G>A n.58G>A c.433G>A (p.Asp145Asn) c.73G>A (p.Asp25Asn) c.517G>A (p.Asp173Asn) | dbSNP COSMIC |
| 17 | g.7675062dup | CA2697552082 | TP53 | c.550dup (p.Asp184GlyfsTer2) c.154dup (p.Asp52GlyfsTer2) c.271dup (p.Asp91GlyfsTer2) c.529dup (p.Asp177GlyfsTer2) n.806dup n.58dup c.433dup (p.Asp145GlyfsTer2) c.73dup (p.Asp25GlyfsTer2) c.517dup (p.Asp173GlyfsTer2) | ClinVar |
| 17 | g.7675063_7675067dup | CA2588340119 | TP53 | c.546_550dup (p.Asp184AlafsTer?) c.150_154dup (p.Asp52AlafsTer?) c.267_271dup (p.Asp91AlafsTer?) c.525_529dup (p.Asp177AlafsTer?) n.802_806dup n.54_58dup c.429_433dup (p.Asp145AlafsTer?) c.69_73dup (p.Asp25AlafsTer?) c.513_517dup (p.Asp173AlafsTer?) | |
| 17 | g.7675063_7675067del | CA645588885 | TP53 | c.546_550del (p.Cys182Ter) c.150_154del (p.Cys50Ter) c.267_271del (p.Cys89Ter) c.525_529del (p.Cys175Ter) n.802_806del n.54_58del c.429_433del (p.Cys143Ter) c.69_73del (p.Cys23Ter) c.513_517del (p.Cys171Ter) | COSMIC |
| 17 | g.7675064_7675073del | CA2733136496 | TP53 | c.541_550del (p.Arg181IlefsTer?) c.145_154del (p.Arg49IlefsTer?) c.262_271del (p.Arg88IlefsTer?) c.520_529del (p.Arg174IlefsTer?) n.797_806del n.49_58del c.424_433del (p.Arg142IlefsTer?) c.64_73del (p.Arg22IlefsTer?) c.508_517del (p.Arg170IlefsTer?) | dbSNP |
| 17 | g.7675063T>A | CA497925574 | TP53 | c.549A>T (p.Ser183=) c.153A>T (p.Ser51=) c.270A>T (p.Ser90=) c.528A>T (p.Ser176=) n.805A>T n.57A>T c.432A>T (p.Ser144=) c.72A>T (p.Ser24=) c.516A>T (p.Ser172=) | ClinVar dbSNP |
| 17 | g.7675063T>C | CA497925572 | TP53 | c.549A>G (p.Ser183=) c.153A>G (p.Ser51=) c.270A>G (p.Ser90=) c.528A>G (p.Ser176=) n.805A>G n.57A>G c.432A>G (p.Ser144=) c.72A>G (p.Ser24=) c.516A>G (p.Ser172=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7675063T>G | CA497925573 | TP53 | c.549A>C (p.Ser183=) c.153A>C (p.Ser51=) c.270A>C (p.Ser90=) c.528A>C (p.Ser176=) n.805A>C n.57A>C c.432A>C (p.Ser144=) c.72A>C (p.Ser24=) c.516A>C (p.Ser172=) | ClinVar dbSNP |
| 17 | g.7675063T= | CA2245955529 | TP53 | c.549A= (p.Ser183=) c.153A= (p.Ser51=) c.270A= (p.Ser90=) c.528A= (p.Ser176=) n.805A= n.57A= c.432A= (p.Ser144=) c.72A= (p.Ser24=) c.516A= (p.Ser172=) | |
| 17 | g.7675063dup | CA645588886 | TP53 | c.549dup (p.Asp184ArgfsTer2) c.153dup (p.Asp52ArgfsTer2) c.270dup (p.Asp91ArgfsTer2) c.528dup (p.Asp177ArgfsTer2) n.805dup n.57dup c.432dup (p.Asp145ArgfsTer2) c.72dup (p.Asp25ArgfsTer2) c.516dup (p.Asp173ArgfsTer2) | COSMIC |
| 17 | g.7675063_7675077del | CA2573154677 | TP53 | c.535_549del (p.His179_Ser183del) c.139_153del (p.His47_Ser51del) c.256_270del (p.His86_Ser90del) c.514_528del (p.His172_Ser176del) n.791_805del n.43_57del c.418_432del (p.His140_Ser144del) c.58_72del (p.His20_Ser24del) c.502_516del (p.His168_Ser172del) | ClinVar dbSNP |
| 17 | g.7675063_7675064insA | CA2697552084 | TP53 | c.548_549insT (p.Asp184ArgfsTer2) c.152_153insT (p.Asp52ArgfsTer2) c.269_270insT (p.Asp91ArgfsTer2) c.527_528insT (p.Asp177ArgfsTer2) n.804_805insT n.56_57insT c.431_432insT (p.Asp145ArgfsTer2) c.71_72insT (p.Asp25ArgfsTer2) c.515_516insT (p.Asp173ArgfsTer2) | ClinVar |
| 17 | g.7675063_7675064insAGCAGCGCTCATGGTGGGGGC | CA645588888 | TP53 | c.548_549insGCCCCCACCATGAGCGCTGCT (p.Ser184ProfsTer4) c.152_153insGCCCCCACCATGAGCGCTGCT (p.Ser52ProfsTer4) c.269_270insGCCCCCACCATGAGCGCTGCT (p.Ser91ProfsTer4) c.527_528insGCCCCCACCATGAGCGCTGCT (p.Ser177ProfsTer4) n.804_805insGCCCCCACCATGAGCGCTGCT n.56_57insGCCCCCACCATGAGCGCTGCT c.431_432insGCCCCCACCATGAGCGCTGCT (p.Ser145ProfsTer4) c.71_72insGCCCCCACCATGAGCGCTGCT (p.Ser25ProfsTer4) c.515_516insGCCCCCACCATGAGCGCTGCT (p.Ser173ProfsTer4) | COSMIC |
| 17 | g.7675064G>A | CA397841206 | TP53 | c.548C>T (p.Ser183Leu) c.152C>T (p.Ser51Leu) c.269C>T (p.Ser90Leu) c.527C>T (p.Ser176Leu) n.804C>T n.56C>T c.431C>T (p.Ser144Leu) c.71C>T (p.Ser24Leu) c.515C>T (p.Ser172Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7675064G>C | CA397841210 | TP53 | c.548C>G (p.Ser183Ter) c.152C>G (p.Ser51Ter) c.269C>G (p.Ser90Ter) c.527C>G (p.Ser176Ter) n.804C>G n.56C>G c.431C>G (p.Ser144Ter) c.71C>G (p.Ser24Ter) c.515C>G (p.Ser172Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675064G= | CA2245955549 | TP53 | c.548C= (p.Ser183=) c.152C= (p.Ser51=) c.269C= (p.Ser90=) c.527C= (p.Ser176=) n.804C= n.56C= c.431C= (p.Ser144=) c.71C= (p.Ser24=) c.515C= (p.Ser172=) | |
| 17 | g.7675064G>T | CA397841225 | TP53 | c.548C>A (p.Ser183Ter) c.152C>A (p.Ser51Ter) c.269C>A (p.Ser90Ter) c.527C>A (p.Ser176Ter) n.804C>A n.56C>A c.431C>A (p.Ser144Ter) c.71C>A (p.Ser24Ter) c.515C>A (p.Ser172Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675064dup | CA2697552085 | TP53 | c.548dup (p.Asp184ArgfsTer2) c.152dup (p.Asp52ArgfsTer2) c.269dup (p.Asp91ArgfsTer2) c.527dup (p.Asp177ArgfsTer2) n.804dup n.56dup c.431dup (p.Asp145ArgfsTer2) c.71dup (p.Asp25ArgfsTer2) c.515dup (p.Asp173ArgfsTer2) | ClinVar |
| 17 | g.7675065_7675066del | CA645588889 | TP53 | c.547_548del (p.Ser183ArgfsTer2) c.151_152del (p.Ser51ArgfsTer2) c.268_269del (p.Ser90ArgfsTer2) c.526_527del (p.Ser176ArgfsTer2) n.803_804del n.55_56del c.430_431del (p.Ser144ArgfsTer2) c.70_71del (p.Ser24ArgfsTer2) c.514_515del (p.Ser172ArgfsTer2) | COSMIC |
| 17 | g.7675065_7675082del | CA645588887 | TP53 | c.531_548del (p.His178_Ser183del) c.135_152del (p.His46_Ser51del) c.252_269del (p.His85_Ser90del) c.510_527del (p.His171_Ser176del) n.787_804del n.39_56del c.414_431del (p.His139_Ser144del) c.54_71del (p.His19_Ser24del) c.498_515del (p.His167_Ser172del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675065A>C | CA397841229 | TP53 | c.547T>G (p.Ser183Ala) c.151T>G (p.Ser51Ala) c.268T>G (p.Ser90Ala) c.526T>G (p.Ser176Ala) n.803T>G n.55T>G c.430T>G (p.Ser144Ala) c.70T>G (p.Ser24Ala) c.514T>G (p.Ser172Ala) | |
| 17 | g.7675065A>G | CA397841231 | TP53 | c.547T>C (p.Ser183Pro) c.151T>C (p.Ser51Pro) c.268T>C (p.Ser90Pro) c.526T>C (p.Ser176Pro) n.803T>C n.55T>C c.430T>C (p.Ser144Pro) c.70T>C (p.Ser24Pro) c.514T>C (p.Ser172Pro) | dbSNP COSMIC |
| 17 | g.7675065A>T | CA397841232 | TP53 | c.547T>A (p.Ser183Thr) c.151T>A (p.Ser51Thr) c.268T>A (p.Ser90Thr) c.526T>A (p.Ser176Thr) n.803T>A n.55T>A c.430T>A (p.Ser144Thr) c.70T>A (p.Ser24Thr) c.514T>A (p.Ser172Thr) | dbSNP |