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.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675226_7676561del | CA645589205 | TP53 | c.36_388del c.-21-1323_-9del c.36_109del c.36_376-9del n.175_644del c.-199_271del c.-82_271del c.36_355del | COSMIC |
| 17 | g.7675995_7676194del | CA645589234 | TP53 | c.179_375+3del c.-21-954_-21-755del (n.-21-954_-21-755del) c.96+192_96+391del (n.96+192_96+391del) n.435_631+3del c.62_258+3del c.179_340+34del | COSMIC |
| 17 | g.7675995_7676272del | CA645589239 | TP53 | c.97_374del (p.Ser33ValfsTer23) c.-21-1036_-21-759del (n.-21-1036_-21-759del) c.96+110_96+387del (n.96+110_96+387del) c.97_374del (p.Ser33AspfsTer16) c.97_374del (p.Ser33ValfsTer?) n.353_630del c.-21_257del c.97_340+30del | COSMIC |
| 17 | g.7676074_7676129del | CA645589310 | TP53 | c.240_295del (p.Thr81ProfsTer?) c.-21-893_-21-838del (n.-21-893_-21-838del) c.96+253_96+308del (n.96+253_96+308del) n.496_551del c.123_178del (p.Thr42ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676081_7676122dup | CA645589315 | TP53 | c.248_289dup (p.Ser96_Val97insAlaAlaProAlaProAlaProSerTrpProLeuSerSerSer) c.-21-885_-21-844dup (n.-21-885_-21-844dup) c.96+261_96+302dup (n.96+261_96+302dup) n.504_545dup c.131_172dup (p.Ser57_Val58insAlaAlaProAlaProAlaProSerTrpProLeuSerSerSer) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676089_7676111del | CA645589322 | TP53 | c.258_280del (p.Pro87IlefsTer?) c.-21-875_-21-853del (n.-21-875_-21-853del) c.96+271_96+293del (n.96+271_96+293del) n.514_536del c.141_163del (p.Pro48IlefsTer?) | COSMIC |
| 17 | g.7676089_7676112delinsACAGGGGCCAGGAGGGGGCTGGTG | CA2245933930 | TP53 | c.257_280delinsCACCAGCCCCCTCCTGGCCCCTGT (p.Ala86=) c.-21-876_-21-853delinsCACCAGCCCCCTCCTGGCCCCTGT (n.-21-876_-21-853delinsCACCAGCCCCCTCCTGGCCCCTGT) c.96+270_96+293delinsCACCAGCCCCCTCCTGGCCCCTGT (n.96+270_96+293delinsCACCAGCCCCCTCCTGGCCCCTGT) n.513_536delinsCACCAGCCCCCTCCTGGCCCCTGT c.140_163delinsCACCAGCCCCCTCCTGGCCCCTGT (p.Ala47=) | |
| 17 | g.7676089_7676142delinsACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG | CA2245933936 | TP53 | c.227_280delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (p.Ala76=) c.-21-906_-21-853delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (n.-21-906_-21-853delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT) c.96+240_96+293delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (n.96+240_96+293delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT) n.483_536delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT c.110_163delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (p.Ala37=) | |
| 17 | g.7676098_7676120del | CA10603324 | TP53 | c.257_279del (p.Ala86ValfsTer?) c.-21-876_-21-854del (n.-21-876_-21-854del) c.96+270_96+292del (n.96+270_96+292del) n.513_535del c.140_162del (p.Ala47ValfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676099_7676151del | CA645369690 | TP53 | c.227_279del (p.Ala76ValfsTer?) c.-21-906_-21-854del (n.-21-906_-21-854del) c.96+240_96+292del (n.96+240_96+292del) n.483_535del c.110_162del (p.Ala37ValfsTer?) | ClinVar dbSNP |
| 17 | g.7676092_7676122del | CA891842280 | TP53 | c.247_277del (p.Ala83CysfsTer30) c.-21-886_-21-856del (n.-21-886_-21-856del) c.96+260_96+290del (n.96+260_96+290del) n.503_533del c.130_160del (p.Ala44CysfsTer30) c.247_277del (p.Ala83CysfsTer?) | |
| 17 | g.7676096_7676232del | CA645589328 | TP53 | c.141_277del (p.Asp48ValfsTer?) c.-21-992_-21-856del (n.-21-992_-21-856del) c.96+154_96+290del (n.96+154_96+290del) n.397_533del c.24_160del (p.Asp9ValfsTer?) | COSMIC |
| 17 | g.7676101_7676116del | CA645589331 | TP53 | c.257_272del (p.Ala86GlyfsTer?) c.-21-876_-21-861del (n.-21-876_-21-861del) c.96+270_96+285del (n.96+270_96+285del) n.513_528del c.140_155del (p.Ala47GlyfsTer?) | COSMIC |
| 17 | g.7676098_7676109delinsAGGAGGGGGCTG | CA2245934044 | TP53 | c.260_271delinsCAGCCCCCTCCT (p.Pro87=) c.-21-873_-21-862delinsCAGCCCCCTCCT (n.-21-873_-21-862delinsCAGCCCCCTCCT) c.96+273_96+284delinsCAGCCCCCTCCT (n.96+273_96+284delinsCAGCCCCCTCCT) n.516_527delinsCAGCCCCCTCCT c.143_154delinsCAGCCCCCTCCT (p.Pro48=) | |
| 17 | g.7676101_7676110del | CA645589335 | TP53 | c.261_270del (p.Ala88GlyfsTer?) c.-21-872_-21-863del (n.-21-872_-21-863del) c.96+274_96+283del (n.96+274_96+283del) n.517_526del c.144_153del (p.Ala49GlyfsTer?) | ClinVar COSMIC COSMIC COSMIC |
| 17 | g.7676100_7676110del | CA913191058 | TP53 | c.260_270del (p.Pro87LeufsTer?) c.-21-873_-21-863del (n.-21-873_-21-863del) c.96+273_96+283del (n.96+273_96+283del) n.516_526del c.143_153del (p.Pro48LeufsTer?) | ClinVar dbSNP |
| 17 | g.7676101_7676117del | CA645589333 | TP53 | c.254_270del (p.Pro85LeufsTer?) c.-21-879_-21-863del (n.-21-879_-21-863del) c.96+267_96+283del (n.96+267_96+283del) n.510_526del c.137_153del (p.Pro46LeufsTer?) | COSMIC |
| 17 | g.7676099_7676143del | CA645589334 | TP53 | c.226_270del (p.Ala76_Ser90del) c.-21-907_-21-863del (n.-21-907_-21-863del) c.96+239_96+283del (n.96+239_96+283del) n.482_526del c.109_153del (p.Ala37_Ser51del) | COSMIC |
| 17 | g.7676106_7676118del | CA645589338 | TP53 | c.256_268del (p.Ala86ProfsTer?) c.-21-877_-21-865del (n.-21-877_-21-865del) c.96+269_96+281del (n.96+269_96+281del) n.512_524del c.139_151del (p.Ala47ProfsTer?) | COSMIC |
| 17 | g.7676105_7676118del | CA645589340 | TP53 | c.254_267del (p.Pro85LeufsTer?) c.-21-879_-21-866del (n.-21-879_-21-866del) c.96+267_96+280del (n.96+267_96+280del) n.510_523del c.137_150del (p.Pro46LeufsTer?) | COSMIC |
| 17 | g.7676107_7676117del | CA645589342 | TP53 | c.255_265del (p.Ala86LeufsTer?) c.-21-878_-21-868del (n.-21-878_-21-868del) c.96+268_96+278del (n.96+268_96+278del) n.511_521del c.138_148del (p.Ala47LeufsTer?) | COSMIC |
| 17 | g.7676107_7676116del | CA645589344 | TP53 | c.255_264del (p.Ala86ProfsTer?) c.-21-878_-21-869del (n.-21-878_-21-869del) c.96+268_96+277del (n.96+268_96+277del) n.511_520del c.138_147del (p.Ala47ProfsTer?) | COSMIC |
| 17 | g.7676105_7676134del | CA645589343 | TP53 | c.235_264del (p.Ala79_Ala88del) c.-21-898_-21-869del (n.-21-898_-21-869del) c.96+248_96+277del (n.96+248_96+277del) n.491_520del c.118_147del (p.Ala40_Ala49del) | COSMIC |
| 17 | g.7676105_7676135delinsGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCT | CA2245934157 | TP53 | c.234_264delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (p.Ala78=) c.-21-899_-21-869delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (n.-21-899_-21-869delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC) c.96+247_96+277delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (n.96+247_96+277delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC) n.490_520delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC c.117_147delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (p.Ala39=) | |
| 17 | g.7676106_7676108delinsCAGGGGCAGGGGCCAGGAGGGGCAGGGGCCA | CA2582341712 | TP53 | c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88GlyfsTer?) c.-21-872_-21-870delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (n.-21-872_-21-870delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG) c.96+274_96+276delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (n.96+274_96+276delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG) n.517_519delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG c.144_146delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala49GlyfsTer?) | ClinVar |
| 17 | g.7676121_7676150del | CA002925 | TP53 | c.234_263del (p.Ala79_Ala88del) c.-21-899_-21-870del (n.-21-899_-21-870del) c.96+247_96+276del (n.96+247_96+276del) n.490_519del c.117_146del (p.Ala40_Ala49del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7676108_7676120del | CA645589346 | TP53 | c.250_262del (p.Ala84ProfsTer?) c.-21-883_-21-871del (n.-21-883_-21-871del) c.96+263_96+275del (n.96+263_96+275del) n.506_518del c.133_145del (p.Ala45ProfsTer?) | COSMIC |
| 17 | g.7676108_7676123del | CA645589345 | TP53 | c.247_262del (p.Ala83ProfsTer?) c.-21-886_-21-871del (n.-21-886_-21-871del) c.96+260_96+275del (n.96+260_96+275del) n.503_518del c.130_145del (p.Ala44ProfsTer?) | COSMIC |
| 17 | g.7676108T>A | CA497925940 | TP53 | c.261A>T (p.Pro87=) c.-21-872A>T (n.-21-872A>T) c.96+274A>T (n.96+274A>T) n.517A>T c.144A>T (p.Pro48=) | ClinVar dbSNP COSMIC |
| 17 | g.7676108T>C | CA497925941 | TP53 | c.261A>G (p.Pro87=) c.-21-872A>G (n.-21-872A>G) c.96+274A>G (n.96+274A>G) n.517A>G c.144A>G (p.Pro48=) | dbSNP |
| 17 | g.7676108T>G | CA497925942 | TP53 | c.261A>C (p.Pro87=) c.-21-872A>C (n.-21-872A>C) c.96+274A>C (n.96+274A>C) n.517A>C c.144A>C (p.Pro48=) | ClinVar dbSNP |
| 17 | g.7676109G>A | CA397845331 | TP53 | c.260C>T (p.Pro87Leu) c.-21-873C>T (n.-21-873C>T) c.96+273C>T (n.96+273C>T) n.516C>T c.143C>T (p.Pro48Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7676109G>C | CA397845340 | TP53 | c.260C>G (p.Pro87Arg) c.-21-873C>G (n.-21-873C>G) c.96+273C>G (n.96+273C>G) n.516C>G c.143C>G (p.Pro48Arg) | ClinVar |
| 17 | g.7676109G= | CA2245934197 | TP53 | c.260C= (p.Pro87=) c.-21-873C= (n.-21-873C=) c.96+273C= (n.96+273C=) n.516C= c.143C= (p.Pro48=) | |
| 17 | g.7676109G>T | CA397845342 | TP53 | c.260C>A (p.Pro87Gln) c.-21-873C>A (n.-21-873C>A) c.96+273C>A (n.96+273C>A) n.516C>A c.143C>A (p.Pro48Gln) | COSMIC |
| 17 | g.7676110_7676125del | CA2695199887 | TP53 | c.245_260del (p.Pro82GlnfsTer?) c.-21-888_-21-873del (n.-21-888_-21-873del) c.96+258_96+273del (n.96+258_96+273del) n.501_516del c.128_143del (p.Pro43GlnfsTer?) | ClinVar |
| 17 | g.7676110G>A | CA397845348 | TP53 | c.259C>T (p.Pro87Ser) c.-21-874C>T (n.-21-874C>T) c.96+272C>T (n.96+272C>T) n.515C>T c.142C>T (p.Pro48Ser) | ClinVar dbSNP |
| 17 | g.7676110G>C | CA397845361 | TP53 | c.259C>G (p.Pro87Ala) c.-21-874C>G (n.-21-874C>G) c.96+272C>G (n.96+272C>G) n.515C>G c.142C>G (p.Pro48Ala) | ClinVar dbSNP |
| 17 | g.7676110G= | CA2245934204 | TP53 | c.259C= (p.Pro87=) c.-21-874C= (n.-21-874C=) c.96+272C= (n.96+272C=) n.515C= c.142C= (p.Pro48=) | |
| 17 | g.7676110G>T | CA397845366 | TP53 | c.259C>A (p.Pro87Thr) c.-21-874C>A (n.-21-874C>A) c.96+272C>A (n.96+272C>A) n.515C>A c.142C>A (p.Pro48Thr) | dbSNP |
| 17 | g.7676111T>A | CA497925943 | TP53 | c.258A>T (p.Ala86=) c.-21-875A>T (n.-21-875A>T) c.96+271A>T (n.96+271A>T) n.514A>T c.141A>T (p.Ala47=) | dbSNP |
| 17 | g.7676111T>C | CA497925944 | TP53 | c.258A>G (p.Ala86=) c.-21-875A>G (n.-21-875A>G) c.96+271A>G (n.96+271A>G) n.514A>G c.141A>G (p.Ala47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7676111T>G | CA497925945 | TP53 | c.258A>C (p.Ala86=) c.-21-875A>C (n.-21-875A>C) c.96+271A>C (n.96+271A>C) n.514A>C c.141A>C (p.Ala47=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7676111T= | CA2245934209 | TP53 | c.258A= (p.Ala86=) c.-21-875A= (n.-21-875A=) c.96+271A= (n.96+271A=) n.514A= c.141A= (p.Ala47=) | |
| 17 | g.7676112G>A | CA397845372 | TP53 | c.257C>T (p.Ala86Val) c.-21-876C>T (n.-21-876C>T) c.96+270C>T (n.96+270C>T) n.513C>T c.140C>T (p.Ala47Val) | ClinVar dbSNP COSMIC |
| 17 | g.7676112G>C | CA397845377 | TP53 | c.257C>G (p.Ala86Gly) c.-21-876C>G (n.-21-876C>G) c.96+270C>G (n.96+270C>G) n.513C>G c.140C>G (p.Ala47Gly) | dbSNP |