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.7675505_7676086del | CA2580095057 | TP53 | c.283_376-269del c.-21-850_-21-269del (n.-21-850_-21-269del) c.96+296_97-269del (n.96+296_97-269del) c.283_376-290del n.539_632-269del c.166_259-269del c.283_341-267del | ClinVar |
| 17 | g.7675972_7676086delinsCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA | CA2245932234 | TP53 | c.283_375+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) c.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) n.539_631+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.166_258+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.283_340+53delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG | |
| 17 | g.7675973_7676086del | CA16615710 | TP53 | c.283_375+21del c.-21-850_-21-737del (n.-21-850_-21-737del) c.96+296_96+409del (n.96+296_96+409del) n.539_631+21del c.166_258+21del c.283_340+52del | ClinVar dbSNP |
| 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.7676041_7676090del | CA645589279 | TP53 | c.282_331del (p.Ser95GlyfsTer?) c.-21-851_-21-802del (n.-21-851_-21-802del) c.96+295_96+344del (n.96+295_96+344del) n.538_587del c.165_214del (p.Ser56GlyfsTer?) c.282_331del (p.Ser95ValfsTer26) | COSMIC |
| 17 | g.7676044_7676101del | CA645589284 | TP53 | c.271_328del (p.Trp91ValfsTer13) c.-21-862_-21-805del (n.-21-862_-21-805del) c.96+284_96+341del (n.96+284_96+341del) n.527_584del c.154_211del (p.Trp52ValfsTer13) c.271_328del (p.Trp91ValfsTer?) | COSMIC |
| 17 | g.7676045_7676079del | CA645589292 | TP53 | c.291_325del (p.Gln100GlyfsTer?) c.-21-842_-21-808del (n.-21-842_-21-808del) c.96+304_96+338del (n.96+304_96+338del) n.547_581del c.174_208del (p.Gln61GlyfsTer?) c.291_325del (p.Gln100ValfsTer26) | COSMIC COSMIC COSMIC |
| 17 | g.7676046_7676087del | CA645589295 | TP53 | c.282_323del (p.Ser95_Gly108del) c.-21-851_-21-810del (n.-21-851_-21-810del) c.96+295_96+336del (n.96+295_96+336del) n.538_579del c.165_206del (p.Ser56_Gly69del) | COSMIC |
| 17 | g.7676058_7676083del | CA2695202528 | TP53 | c.286_311del (p.Ser96GlyfsTer?) c.-21-847_-21-822del (n.-21-847_-21-822del) c.96+299_96+324del (n.96+299_96+324del) n.542_567del c.169_194del (p.Ser57GlyfsTer?) | |
| 17 | g.7676071_7676075delinsGGGAA | CA2245933769 | TP53 | c.294_298delinsTTCCC (p.Pro98=) c.-21-839_-21-835delinsTTCCC (n.-21-839_-21-835delinsTTCCC) c.96+307_96+311delinsTTCCC (n.96+307_96+311delinsTTCCC) n.550_554delinsTTCCC c.177_181delinsTTCCC (p.Pro59=) | |
| 17 | g.7676075_7676079del | CA645589309 | TP53 | c.294_298del (p.Ser99GlufsTer?) c.-21-839_-21-835del (n.-21-839_-21-835del) c.96+307_96+311del (n.96+307_96+311del) n.550_554del c.177_181del (p.Ser60GlufsTer?) | ClinVar dbSNP COSMIC |
| 17 | g.7676074_7676077del | CA000095 | TP53 | c.294_297del (p.Ser99ArgfsTer23) c.-21-839_-21-836del (n.-21-839_-21-836del) c.96+307_96+310del (n.96+307_96+310del) n.550_553del c.177_180del (p.Ser60ArgfsTer23) c.294_297del (p.Ser99ArgfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676073_7676074delinsGA | CA2245933808 | TP53 | c.295_296delinsTC (p.Ser99=) c.-21-838_-21-837delinsTC (n.-21-838_-21-837delinsTC) c.96+308_96+309delinsTC (n.96+308_96+309delinsTC) n.551_552delinsTC c.178_179delinsTC (p.Ser60=) | |
| 17 | g.7676074A>C | CA397844912 | TP53 | c.295T>G (p.Ser99Ala) c.-21-838T>G (n.-21-838T>G) c.96+308T>G (n.96+308T>G) n.551T>G c.178T>G (p.Ser60Ala) | |
| 17 | g.7676074A>G | CA397844916 | TP53 | c.295T>C (p.Ser99Pro) c.-21-838T>C (n.-21-838T>C) c.96+308T>C (n.96+308T>C) n.551T>C c.178T>C (p.Ser60Pro) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7676074A>T | CA397844913 | TP53 | c.295T>A (p.Ser99Thr) c.-21-838T>A (n.-21-838T>A) c.96+308T>A (n.96+308T>A) n.551T>A c.178T>A (p.Ser60Thr) | dbSNP |
| 17 | g.7676075del | CA497925912 | TP53 | c.295del (p.Ser99ProfsTer24) c.-21-838del (n.-21-838del) c.96+308del (n.96+308del) n.551del c.178del (p.Ser60ProfsTer24) c.295del (p.Ser99ProfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC 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.7676075A>C | CA497925913 | TP53 | c.294T>G (p.Pro98=) c.-21-839T>G (n.-21-839T>G) c.96+307T>G (n.96+307T>G) n.550T>G c.177T>G (p.Pro59=) | |
| 17 | g.7676075A>G | CA497925914 | TP53 | c.294T>C (p.Pro98=) c.-21-839T>C (n.-21-839T>C) c.96+307T>C (n.96+307T>C) n.550T>C c.177T>C (p.Pro59=) | dbSNP |
| 17 | g.7676075A>T | CA497925915 | TP53 | c.294T>A (p.Pro98=) c.-21-839T>A (n.-21-839T>A) c.96+307T>A (n.96+307T>A) n.550T>A c.177T>A (p.Pro59=) | ClinVar dbSNP |
| 17 | g.7676075_7676077del | CA2580095097 | TP53 | c.292_294del (p.Pro98del) c.-21-841_-21-839del (n.-21-841_-21-839del) c.96+305_96+307del (n.96+305_96+307del) n.548_550del c.175_177del (p.Pro59del) | ClinVar |
| 17 | g.7676079_7676104del | CA2695223133 | TP53 | c.269_294del (p.Ser90PhefsTer?) c.-21-864_-21-839del (n.-21-864_-21-839del) c.96+282_96+307del (n.96+282_96+307del) n.525_550del c.152_177del (p.Ser51PhefsTer?) | |
| 17 | g.7676076G>A | CA397844920 | TP53 | c.293C>T (p.Pro98Leu) c.-21-840C>T (n.-21-840C>T) c.96+306C>T (n.96+306C>T) n.549C>T c.176C>T (p.Pro59Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676076G>C | CA397844934 | TP53 | c.293C>G (p.Pro98Arg) c.-21-840C>G (n.-21-840C>G) c.96+306C>G (n.96+306C>G) n.549C>G c.176C>G (p.Pro59Arg) | ClinVar dbSNP |
| 17 | g.7676076G= | CA2245933833 | TP53 | c.293C= (p.Pro98=) c.-21-840C= (n.-21-840C=) c.96+306C= (n.96+306C=) n.549C= c.176C= (p.Pro59=) | |
| 17 | g.7676076G>T | CA397844938 | TP53 | c.293C>A (p.Pro98His) c.-21-840C>A (n.-21-840C>A) c.96+306C>A (n.96+306C>A) n.549C>A c.176C>A (p.Pro59His) | dbSNP |
| 17 | g.7676076_7676077delinsAA | CA645589311 | TP53 | c.292_293delinsTT (p.Pro98Phe) c.-21-841_-21-840delinsTT (n.-21-841_-21-840delinsTT) c.96+305_96+306delinsTT (n.96+305_96+306delinsTT) n.548_549delinsTT c.175_176delinsTT (p.Pro59Phe) | COSMIC |
| 17 | g.7676078del | CA2695223134 | TP53 | c.293del (p.Pro98LeufsTer25) c.-21-840del (n.-21-840del) c.96+306del (n.96+306del) n.549del c.176del (p.Pro59LeufsTer25) c.293del (p.Pro98LeufsTer?) | |
| 17 | g.7676077G>A | CA397844943 | TP53 | c.292C>T (p.Pro98Ser) c.-21-841C>T (n.-21-841C>T) c.96+305C>T (n.96+305C>T) n.548C>T c.175C>T (p.Pro59Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676077G>C | CA397844945 | TP53 | c.292C>G (p.Pro98Ala) c.-21-841C>G (n.-21-841C>G) c.96+305C>G (n.96+305C>G) n.548C>G c.175C>G (p.Pro59Ala) | ClinVar dbSNP |
| 17 | g.7676077G= | CA2245933846 | TP53 | c.292C= (p.Pro98=) c.-21-841C= (n.-21-841C=) c.96+305C= (n.96+305C=) n.548C= c.175C= (p.Pro59=) | |
| 17 | g.7676077G>T | CA397844947 | TP53 | c.292C>A (p.Pro98Thr) c.-21-841C>A (n.-21-841C>A) c.96+305C>A (n.96+305C>A) n.548C>A c.175C>A (p.Pro59Thr) | ClinVar dbSNP |
| 17 | g.7676077_7676078insTA | CA645589313 | TP53 | c.291_292insTA (p.Pro98TyrfsTer26) c.-21-842_-21-841insTA (n.-21-842_-21-841insTA) c.96+304_96+305insTA (n.96+304_96+305insTA) n.547_548insTA c.174_175insTA (p.Pro59TyrfsTer26) c.291_292insTA (p.Pro98TyrfsTer?) | COSMIC |
| 17 | g.7676078G>A | CA497925916 | TP53 | c.291C>T (p.Val97=) c.-21-842C>T (n.-21-842C>T) c.96+304C>T (n.96+304C>T) n.547C>T c.174C>T (p.Val58=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676078G>C | CA497925917 | TP53 | c.291C>G (p.Val97=) c.-21-842C>G (n.-21-842C>G) c.96+304C>G (n.96+304C>G) n.547C>G c.174C>G (p.Val58=) | dbSNP gnomAD v4 |
| 17 | g.7676078G>T | CA497925918 | TP53 | c.291C>A (p.Val97=) c.-21-842C>A (n.-21-842C>A) c.96+304C>A (n.96+304C>A) n.547C>A c.174C>A (p.Val58=) | ClinVar dbSNP |
| 17 | g.7676080_7676083del | CA645589312 | TP53 | c.288_291del (p.Val97LeufsTer25) c.-21-845_-21-842del (n.-21-845_-21-842del) c.96+301_96+304del (n.96+301_96+304del) n.544_547del c.171_174del (p.Val58LeufsTer25) c.288_291del (p.Val97LeufsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676079A= | CA2245933862 | TP53 | c.290T= (p.Val97=) c.-21-843T= (n.-21-843T=) c.96+303T= (n.96+303T=) n.546T= c.173T= (p.Val58=) | |
| 17 | g.7676079A>C | CA397844950 | TP53 | c.290T>G (p.Val97Gly) c.-21-843T>G (n.-21-843T>G) c.96+303T>G (n.96+303T>G) n.546T>G c.173T>G (p.Val58Gly) | dbSNP |
| 17 | g.7676079A>G | CA397844954 | TP53 | c.290T>C (p.Val97Ala) c.-21-843T>C (n.-21-843T>C) c.96+303T>C (n.96+303T>C) n.546T>C c.173T>C (p.Val58Ala) | ClinVar dbSNP COSMIC |
| 17 | g.7676079A>T | CA000094 | TP53 | c.290T>A (p.Val97Asp) c.-21-843T>A (n.-21-843T>A) c.96+303T>A (n.96+303T>A) n.546T>A c.173T>A (p.Val58Asp) | ClinVar dbSNP |
| 17 | g.7676080C>A | CA397844977 | TP53 | c.289G>T (p.Val97Phe) c.-21-844G>T (n.-21-844G>T) c.96+302G>T (n.96+302G>T) n.545G>T c.172G>T (p.Val58Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7676080C= | CA2245933876 | TP53 | c.289G= (p.Val97=) c.-21-844G= (n.-21-844G=) c.96+302G= (n.96+302G=) n.545G= c.172G= (p.Val58=) |