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.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.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.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.7676083_7676099del | CA645589314 | TP53 | c.273_289del (p.Trp91CysfsTer?) c.-21-860_-21-844del (n.-21-860_-21-844del) c.96+286_96+302del (n.96+286_96+302del) n.529_545del c.156_172del (p.Trp52CysfsTer?) | 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_7676096delinsACAGGGGC | CA2245933934 | TP53 | c.273_280delinsGCCCCTGT (p.Trp91=) c.-21-860_-21-853delinsGCCCCTGT (n.-21-860_-21-853delinsGCCCCTGT) c.96+286_96+293delinsGCCCCTGT (n.96+286_96+293delinsGCCCCTGT) n.529_536delinsGCCCCTGT c.156_163delinsGCCCCTGT (p.Trp52=) | |
| 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.7676090_7676092delinsCAG | CA2245933958 | TP53 | c.277_279delinsCTG (p.Leu93=) c.-21-856_-21-854delinsCTG (n.-21-856_-21-854delinsCTG) c.96+290_96+292delinsCTG (n.96+290_96+292delinsCTG) n.533_535delinsCTG c.160_162delinsCTG (p.Leu54=) | |
| 17 | g.7676094_7676100del | CA16620638 | TP53 | c.273_279del (p.Trp91CysfsTer30) c.-21-860_-21-854del (n.-21-860_-21-854del) c.96+286_96+292del (n.96+286_96+292del) n.529_535del c.156_162del (p.Trp52CysfsTer30) c.273_279del (p.Trp91CysfsTer?) | ClinVar dbSNP |
| 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.7676091_7676092del | CA645589325 | TP53 | c.277_278del (p.Leu93ValfsTer?) c.-21-856_-21-855del (n.-21-856_-21-855del) c.96+290_96+291del (n.96+290_96+291del) n.533_534del c.160_161del (p.Leu54ValfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676091_7676092delinsAG | CA2245933967 | TP53 | c.277_278delinsCT (p.Leu93=) c.-21-856_-21-855delinsCT (n.-21-856_-21-855delinsCT) c.96+290_96+291delinsCT (n.96+290_96+291delinsCT) n.533_534delinsCT c.160_161delinsCT (p.Leu54=) | |
| 17 | g.7676092_7676093insAAGGAAGGGACAGAAGGAAG | CA2499224979 | TP53 | c.278_279insTCCTTCTGTCCCTTCCTTCT (p.Ser94ProfsTer36) c.-21-855_-21-854insTCCTTCTGTCCCTTCCTTCT (n.-21-855_-21-854insTCCTTCTGTCCCTTCCTTCT) c.96+291_96+292insTCCTTCTGTCCCTTCCTTCT (n.96+291_96+292insTCCTTCTGTCCCTTCCTTCT) n.534_535insTCCTTCTGTCCCTTCCTTCT c.161_162insTCCTTCTGTCCCTTCCTTCT (p.Ser55ProfsTer36) c.278_279insTCCTTCTGTCCCTTCCTTCT (p.Ser94ProfsTer?) | dbSNP |
| 17 | g.7676092G>A | CA10580951 | TP53 | c.277C>T (p.Leu93=) c.-21-856C>T (n.-21-856C>T) c.96+290C>T (n.96+290C>T) n.533C>T c.160C>T (p.Leu54=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7676092G>C | CA397845119 | TP53 | c.277C>G (p.Leu93Val) c.-21-856C>G (n.-21-856C>G) c.96+290C>G (n.96+290C>G) n.533C>G c.160C>G (p.Leu54Val) | dbSNP |
| 17 | g.7676092G= | CA2245933989 | TP53 | c.277C= (p.Leu93=) c.-21-856C= (n.-21-856C=) c.96+290C= (n.96+290C=) n.533C= c.160C= (p.Leu54=) | |
| 17 | g.7676092G>T | CA397845118 | TP53 | c.277C>A (p.Leu93Met) c.-21-856C>A (n.-21-856C>A) c.96+290C>A (n.96+290C>A) n.533C>A c.160C>A (p.Leu54Met) | dbSNP COSMIC |
| 17 | g.7676095del | CA497925929 | TP53 | c.277del (p.Leu93CysfsTer30) c.-21-856del (n.-21-856del) c.96+290del (n.96+290del) n.533del c.160del (p.Leu54CysfsTer30) c.277del (p.Leu93CysfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676094_7676095del | CA2635874666 | TP53 | c.276_277del (p.Leu93ValfsTer?) c.-21-857_-21-856del (n.-21-857_-21-856del) c.96+289_96+290del (n.96+289_96+290del) n.532_533del c.159_160del (p.Leu54ValfsTer?) | gnomAD v4 |
| 17 | g.7676097_7676107del | CA2580095100 | TP53 | c.267_277del (p.Ser90ValfsTer?) c.-21-866_-21-856del (n.-21-866_-21-856del) c.96+280_96+290del (n.96+280_96+290del) n.523_533del c.150_160del (p.Ser51ValfsTer?) | ClinVar |
| 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.7676093G>A | CA10580952 | TP53 | c.276C>T (p.Pro92=) c.-21-857C>T (n.-21-857C>T) c.96+289C>T (n.96+289C>T) n.532C>T c.159C>T (p.Pro53=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676093G>C | CA497925930 | TP53 | c.276C>G (p.Pro92=) c.-21-857C>G (n.-21-857C>G) c.96+289C>G (n.96+289C>G) n.532C>G c.159C>G (p.Pro53=) | dbSNP |
| 17 | g.7676093G= | CA2245933999 | TP53 | c.276C= (p.Pro92=) c.-21-857C= (n.-21-857C=) c.96+289C= (n.96+289C=) n.532C= c.159C= (p.Pro53=) | |
| 17 | g.7676093G>T | CA497925931 | TP53 | c.276C>A (p.Pro92=) c.-21-857C>A (n.-21-857C>A) c.96+289C>A (n.96+289C>A) n.532C>A c.159C>A (p.Pro53=) | ClinVar dbSNP |
| 17 | g.7676094G>A | CA397845138 | TP53 | c.275C>T (p.Pro92Leu) c.-21-858C>T (n.-21-858C>T) c.96+288C>T (n.96+288C>T) n.531C>T c.158C>T (p.Pro53Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7676094G>C | CA397845130 | TP53 | c.275C>G (p.Pro92Arg) c.-21-858C>G (n.-21-858C>G) c.96+288C>G (n.96+288C>G) n.531C>G c.158C>G (p.Pro53Arg) | |
| 17 | g.7676094G= | CA2245934009 | TP53 | c.275C= (p.Pro92=) c.-21-858C= (n.-21-858C=) c.96+288C= (n.96+288C=) n.531C= c.158C= (p.Pro53=) | |
| 17 | g.7676094G>T | CA397845135 | TP53 | c.275C>A (p.Pro92His) c.-21-858C>A (n.-21-858C>A) c.96+288C>A (n.96+288C>A) n.531C>A c.158C>A (p.Pro53His) | |
| 17 | g.7676095G>A | CA397845144 | TP53 | c.274C>T (p.Pro92Ser) c.-21-859C>T (n.-21-859C>T) c.96+287C>T (n.96+287C>T) n.530C>T c.157C>T (p.Pro53Ser) | dbSNP |
| 17 | g.7676095G>C | CA397845146 | TP53 | c.274C>G (p.Pro92Ala) c.-21-859C>G (n.-21-859C>G) c.96+287C>G (n.96+287C>G) n.530C>G c.157C>G (p.Pro53Ala) | dbSNP COSMIC |
| 17 | g.7676095G>T | CA397845155 | TP53 | c.274C>A (p.Pro92Thr) c.-21-859C>A (n.-21-859C>A) c.96+287C>A (n.96+287C>A) n.530C>A c.157C>A (p.Pro53Thr) | dbSNP COSMIC |
| 17 | g.7676095_7676096del | CA645589329 | TP53 | c.273_274del (p.Trp91CysfsTer?) c.-21-860_-21-859del (n.-21-860_-21-859del) c.96+286_96+287del (n.96+286_96+287del) n.529_530del c.156_157del (p.Trp52CysfsTer?) | COSMIC |
| 17 | g.7676096C>A | CA397845160 | TP53 | c.273G>T (p.Trp91Cys) c.-21-860G>T (n.-21-860G>T) c.96+286G>T (n.96+286G>T) n.529G>T c.156G>T (p.Trp52Cys) | dbSNP |
| 17 | g.7676096C= | CA2245934021 | TP53 | c.273G= (p.Trp91=) c.-21-860G= (n.-21-860G=) c.96+286G= (n.96+286G=) n.529G= c.156G= (p.Trp52=) | |
| 17 | g.7676096C>G | CA397845163 | TP53 | c.273G>C (p.Trp91Cys) c.-21-860G>C (n.-21-860G>C) c.96+286G>C (n.96+286G>C) n.529G>C c.156G>C (p.Trp52Cys) | dbSNP |
| 17 | g.7676096C>T | CA10580953 | TP53 | c.273G>A (p.Trp91Ter) c.-21-860G>A (n.-21-860G>A) c.96+286G>A (n.96+286G>A) n.529G>A c.156G>A (p.Trp52Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676097dup | CA2695223135 | TP53 | c.273dup (p.Pro92AlafsTer?) c.-21-860dup (n.-21-860dup) c.96+286dup (n.96+286dup) n.529dup c.156dup (p.Pro53AlafsTer?) | |
| 17 | g.7676097del | CA645589330 | TP53 | c.273del (p.Trp91CysfsTer?) c.-21-860del (n.-21-860del) c.96+286del (n.96+286del) n.529del c.156del (p.Trp52CysfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |