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_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.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.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.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.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.7676112_7676122delinsGCAGGGGCCGC | CA2245934219 | TP53 | c.247_257delinsGCGGCCCCTGC (p.Ala83=) c.-21-886_-21-876delinsGCGGCCCCTGC (n.-21-886_-21-876delinsGCGGCCCCTGC) c.96+260_96+270delinsGCGGCCCCTGC (n.96+260_96+270delinsGCGGCCCCTGC) n.503_513delinsGCGGCCCCTGC c.130_140delinsGCGGCCCCTGC (p.Ala44=) | |
| 17 | g.7676114_7676123del | CA658824568 | TP53 | c.247_256del (p.Ala83HisfsTer?) c.-21-886_-21-877del (n.-21-886_-21-877del) c.96+260_96+269del (n.96+260_96+269del) n.503_512del c.130_139del (p.Ala44HisfsTer?) | ClinVar dbSNP |
| 17 | g.7676114_7676127del | CA891842281 | TP53 | c.242_255del (p.Thr81SerfsTer?) c.-21-891_-21-878del (n.-21-891_-21-878del) c.96+255_96+268del (n.96+255_96+268del) n.498_511del c.125_138del (p.Thr42SerfsTer?) | |
| 17 | g.7676118dup | CA645589347 | TP53 | c.254dup (p.Ala86CysfsTer?) c.-21-879dup (n.-21-879dup) c.96+267dup (n.96+267dup) n.510dup c.137dup (p.Ala47CysfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676118del | CA16620639 | TP53 | c.254del (p.Pro85LeufsTer?) c.-21-879del (n.-21-879del) c.96+267del (n.96+267del) n.510del c.137del (p.Pro46LeufsTer?) | ClinVar dbSNP |
| 17 | g.7676117_7676118del | CA645589348 | TP53 | c.253_254del (p.Pro85CysfsTer?) c.-21-880_-21-879del (n.-21-880_-21-879del) c.96+266_96+267del (n.96+266_96+267del) n.509_510del c.136_137del (p.Pro46CysfsTer?) | COSMIC |
| 17 | g.7676115_7676123delinsGGGGCCGCC | CA2245934270 | TP53 | c.246_254delinsGGCGGCCCC (p.Pro82=) c.-21-887_-21-879delinsGGCGGCCCC (n.-21-887_-21-879delinsGGCGGCCCC) c.96+259_96+267delinsGGCGGCCCC (n.96+259_96+267delinsGGCGGCCCC) n.502_510delinsGGCGGCCCC c.129_137delinsGGCGGCCCC (p.Pro43=) | |
| 17 | g.7676118_7676125del | CA913191059 | TP53 | c.246_253del (p.Ala83CysfsTer?) c.-21-887_-21-880del (n.-21-887_-21-880del) c.96+259_96+266del (n.96+259_96+266del) n.502_509del c.129_136del (p.Ala44CysfsTer?) | ClinVar dbSNP |
| 17 | g.7676119_7676179del | CA645589349 | TP53 | c.193_253del (p.Arg65LeufsTer?) c.-21-940_-21-880del (n.-21-940_-21-880del) c.96+206_96+266del (n.96+206_96+266del) n.449_509del c.76_136del (p.Arg26LeufsTer?) | COSMIC |
| 17 | g.7676117_7676118delinsAA | CA645589350 | TP53 | c.251_252delinsTT (p.Ala84Val) c.-21-882_-21-881delinsTT (n.-21-882_-21-881delinsTT) c.96+264_96+265delinsTT (n.96+264_96+265delinsTT) n.507_508delinsTT c.134_135delinsTT (p.Ala45Val) | COSMIC |
| 17 | g.7676118G>A | CA397845445 | TP53 | c.251C>T (p.Ala84Val) c.-21-882C>T (n.-21-882C>T) c.96+264C>T (n.96+264C>T) n.507C>T c.134C>T (p.Ala45Val) | ClinVar dbSNP COSMIC |
| 17 | g.7676118G>C | CA397845453 | TP53 | c.251C>G (p.Ala84Gly) c.-21-882C>G (n.-21-882C>G) c.96+264C>G (n.96+264C>G) n.507C>G c.134C>G (p.Ala45Gly) | dbSNP COSMIC |
| 17 | g.7676118G= | CA2245934309 | TP53 | c.251C= (p.Ala84=) c.-21-882C= (n.-21-882C=) c.96+264C= (n.96+264C=) n.507C= c.134C= (p.Ala45=) | |
| 17 | g.7676118G>T | CA397845452 | TP53 | c.251C>A (p.Ala84Asp) c.-21-882C>A (n.-21-882C>A) c.96+264C>A (n.96+264C>A) n.507C>A c.134C>A (p.Ala45Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7676118_7676119delinsGC | CA2245934310 | TP53 | c.250_251delinsGC (p.Ala84=) c.-21-883_-21-882delinsGC (n.-21-883_-21-882delinsGC) c.96+263_96+264delinsGC (n.96+263_96+264delinsGC) n.506_507delinsGC c.133_134delinsGC (p.Ala45=) | |
| 17 | g.7676118_7676119delinsTT | CA2697552147 | TP53 | c.250_251delinsAA (p.Ala84Asn) c.-21-883_-21-882delinsAA (n.-21-883_-21-882delinsAA) c.96+263_96+264delinsAA (n.96+263_96+264delinsAA) n.506_507delinsAA c.133_134delinsAA (p.Ala45Asn) | ClinVar |
| 17 | g.7676118_7676119insA | CA645589351 | TP53 | c.250_251insT (p.Ala84ValfsTer?) c.-21-883_-21-882insT (n.-21-883_-21-882insT) c.96+263_96+264insT (n.96+263_96+264insT) n.506_507insT c.133_134insT (p.Ala45ValfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676119C>A | CA397845457 | TP53 | c.250G>T (p.Ala84Ser) c.-21-883G>T (n.-21-883G>T) c.96+263G>T (n.96+263G>T) n.506G>T c.133G>T (p.Ala45Ser) | dbSNP |
| 17 | g.7676119C= | CA2245934329 | TP53 | c.250G= (p.Ala84=) c.-21-883G= (n.-21-883G=) c.96+263G= (n.96+263G=) n.506G= c.133G= (p.Ala45=) | |
| 17 | g.7676119C>G | CA397845463 | TP53 | c.250G>C (p.Ala84Pro) c.-21-883G>C (n.-21-883G>C) c.96+263G>C (n.96+263G>C) n.506G>C c.133G>C (p.Ala45Pro) | dbSNP |
| 17 | g.7676119C>T | CA000085 | TP53 | c.250G>A (p.Ala84Thr) c.-21-883G>A (n.-21-883G>A) c.96+263G>A (n.96+263G>A) n.506G>A c.133G>A (p.Ala45Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7676120del | CA497925949 | TP53 | c.250del (p.Ala84ProfsTer?) c.-21-883del (n.-21-883del) c.96+263del (n.96+263del) n.506del c.133del (p.Ala45ProfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676119_7676121delinsCCG | CA2245934327 | TP53 | c.248_250delinsCGG (p.Ala83=) c.-21-885_-21-883delinsCGG (n.-21-885_-21-883delinsCGG) c.96+261_96+263delinsCGG (n.96+261_96+263delinsCGG) n.504_506delinsCGG c.131_133delinsCGG (p.Ala44=) | |
| 17 | g.7676120_7676123del | CA645589352 | TP53 | c.247_250del (p.Ala83ProfsTer?) c.-21-886_-21-883del (n.-21-886_-21-883del) c.96+260_96+263del (n.96+260_96+263del) n.503_506del c.130_133del (p.Ala44ProfsTer?) | COSMIC |
| 17 | g.7676120C>A | CA497925950 | TP53 | c.249G>T (p.Ala83=) c.-21-884G>T (n.-21-884G>T) c.96+262G>T (n.96+262G>T) n.505G>T c.132G>T (p.Ala44=) | dbSNP |
| 17 | g.7676120C= | CA2245934341 | TP53 | c.249G= (p.Ala83=) c.-21-884G= (n.-21-884G=) c.96+262G= (n.96+262G=) n.505G= c.132G= (p.Ala44=) | |
| 17 | g.7676120C>G | CA497925951 | TP53 | c.249G>C (p.Ala83=) c.-21-884G>C (n.-21-884G>C) c.96+262G>C (n.96+262G>C) n.505G>C c.132G>C (p.Ala44=) | dbSNP |