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_7676057del | CA645589237 | TP53 | c.314_375+1del c.-21-819_-21-757del (n.-21-819_-21-757del) c.96+327_96+389del (n.96+327_96+389del) n.570_631+1del c.197_258+1del c.314_340+32del | COSMIC |
| 17 | g.7675995_7676052del | CA645589238 | TP53 | c.318_375del (p.Tyr107ThrfsTer?) c.-21-815_-21-758del (n.-21-815_-21-758del) c.96+331_96+388del (n.96+331_96+388del) c.318_375del (p.Ser106ArgfsTer?) n.574_631del c.201_258del (p.Tyr68ThrfsTer?) c.318_340+31del | 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.7676006_7676040dup | CA915949544 | TP53 | c.331_365dup (p.Thr123TrpfsTer12) c.-21-802_-21-768dup (n.-21-802_-21-768dup) c.96+344_96+378dup (n.96+344_96+378dup) n.587_621dup c.214_248dup (p.Thr84TrpfsTer12) c.331_340+21dup | ClinVar dbSNP |
| 17 | g.7676010_7676040dup | CA645373069 | TP53 | c.334_364dup (p.Val122GlyfsTer37) c.-21-799_-21-769dup (n.-21-799_-21-769dup) c.96+347_96+377dup (n.96+347_96+377dup) c.334_364dup (p.Val122GlyfsTer30) c.334_364dup (p.Val122GlyfsTer?) n.590_620dup c.217_247dup (p.Val83GlyfsTer37) c.333+1_340+20dup | ClinVar dbSNP |
| 17 | g.7676011_7676058dup | CA2245932646 | TP53 | c.313_360dup (p.Lys120_Ser121insGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLys) c.-21-820_-21-773dup (n.-21-820_-21-773dup) c.96+326_96+373dup (n.96+326_96+373dup) n.569_616dup c.196_243dup (p.Lys81_Ser82insGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLys) c.313_340+16dup | ClinVar dbSNP |
| 17 | g.7676028_7676040del | CA645589264 | TP53 | c.330_342del (p.Leu111IlefsTer8) c.-21-803_-21-791del (n.-21-803_-21-791del) c.96+343_96+355del (n.96+343_96+355del) n.586_598del c.213_225del (p.Leu72IlefsTer8) c.330_338del | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676029_7676041delinsAGAAGCCCAGACG | CA2245932909 | TP53 | c.328_340delinsCGTCTGGGCTTCT (p.Arg110=) c.-21-805_-21-793delinsCGTCTGGGCTTCT (n.-21-805_-21-793delinsCGTCTGGGCTTCT) c.96+341_96+353delinsCGTCTGGGCTTCT (n.96+341_96+353delinsCGTCTGGGCTTCT) n.584_596delinsCGTCTGGGCTTCT c.211_223delinsCGTCTGGGCTTCT (p.Arg71=) c.328_336delinsCGTCTGGGCTTCT | |
| 17 | g.7676029_7676047delinsAGAAGCCCAGACGGAAACC | CA2245932911 | TP53 | c.322_340delinsGGTTTCCGTCTGGGCTTCT (p.Gly108=) c.-21-811_-21-793delinsGGTTTCCGTCTGGGCTTCT (n.-21-811_-21-793delinsGGTTTCCGTCTGGGCTTCT) c.96+335_96+353delinsGGTTTCCGTCTGGGCTTCT (n.96+335_96+353delinsGGTTTCCGTCTGGGCTTCT) n.578_596delinsGGTTTCCGTCTGGGCTTCT c.205_223delinsGGTTTCCGTCTGGGCTTCT (p.Gly69=) c.322_336delinsGGTTTCCGTCTGGGCTTCT | |
| 17 | g.7676033_7676044del | CA000115 | TP53 | c.328_339del (p.Arg110_Phe113del) c.-21-805_-21-794del (n.-21-805_-21-794del) c.96+341_96+352del (n.96+341_96+352del) n.584_595del c.211_222del (p.Arg71_Phe74del) c.328_335del | ClinVar dbSNP |
| 17 | g.7676031_7676048del | CA10588673 | TP53 | c.322_339del (p.Gly108_Phe113del) c.-21-811_-21-794del (n.-21-811_-21-794del) c.96+335_96+352del (n.96+335_96+352del) n.578_595del c.205_222del (p.Gly69_Phe74del) c.322_335del | ClinVar dbSNP |
| 17 | g.7676033_7676045delinsGCCCAGACGGAAA | CA2245933005 | TP53 | c.324_336delinsTTTCCGTCTGGGC (p.Gly108=) c.-21-809_-21-797delinsTTTCCGTCTGGGC (n.-21-809_-21-797delinsTTTCCGTCTGGGC) c.96+337_96+349delinsTTTCCGTCTGGGC (n.96+337_96+349delinsTTTCCGTCTGGGC) n.580_592delinsTTTCCGTCTGGGC c.207_219delinsTTTCCGTCTGGGC (p.Gly69=) c.324_334-2delinsTTTCCGTCTGGGC | |
| 17 | g.7676037_7676057del | CA891842274 | TP53 | c.316_336del (p.Ser106_Gly112del) c.-21-817_-21-797del (n.-21-817_-21-797del) c.96+329_96+349del (n.96+329_96+349del) n.572_592del c.199_219del (p.Ser67_Gly73del) c.316_334-2del | |
| 17 | g.7676036_7676047del | CA1139665172 | TP53 | c.324_335del (p.Phe109_Gly112del) c.-21-809_-21-798del (n.-21-809_-21-798del) c.96+337_96+348del (n.96+337_96+348del) n.580_591del c.207_218del (p.Phe70_Gly73del) c.324_334-3del | ClinVar dbSNP |
| 17 | g.7676037_7676047dup | CA2245933043 | TP53 | c.324_334dup (p.Gly112ValfsTer15) c.-21-809_-21-799dup (n.-21-809_-21-799dup) c.96+337_96+347dup (n.96+337_96+347dup) n.580_590dup c.207_217dup (p.Gly73ValfsTer15) c.324_333+1dup | dbSNP |
| 17 | g.7676035_7676061del | CA645589272 | TP53 | c.308_334del (p.Tyr103_Gly112delinsCys) c.-21-825_-21-799del (n.-21-825_-21-799del) c.96+321_96+347del (n.96+321_96+347del) n.564_590del c.191_217del (p.Tyr64_Gly73delinsCys) c.308_333+1del | COSMIC |
| 17 | g.7676036_7676048del | CA645589274 | TP53 | c.321_333del (p.Tyr107Ter) c.-21-812_-21-800del (n.-21-812_-21-800del) c.96+334_96+346del (n.96+334_96+346del) n.577_589del c.204_216del (p.Tyr68Ter) c.321_333del (p.Gly108LeufsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676037_7676045delinsAGACGGAAA | CA2245933096 | TP53 | c.324_332delinsTTTCCGTCT (p.Gly108=) c.-21-809_-21-801delinsTTTCCGTCT (n.-21-809_-21-801delinsTTTCCGTCT) c.96+337_96+345delinsTTTCCGTCT (n.96+337_96+345delinsTTTCCGTCT) n.580_588delinsTTTCCGTCT c.207_215delinsTTTCCGTCT (p.Gly69=) | |
| 17 | g.7676038_7676045del | CA645589276 | TP53 | c.325_332del (p.Phe109GlyfsTer?) c.-21-808_-21-801del (n.-21-808_-21-801del) c.96+338_96+345del (n.96+338_96+345del) c.325_332del (p.Phe109GlyfsTer30) n.581_588del c.208_215del (p.Phe70GlyfsTer?) c.325_332del (p.Phe109ValfsTer26) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676037_7676047delinsTGAAT | CA2497028965 | TP53 | c.322_332delinsATTCA (p.Gly108_Leu111delinsIleGln) c.-21-811_-21-801delinsATTCA (n.-21-811_-21-801delinsATTCA) c.96+335_96+345delinsATTCA (n.96+335_96+345delinsATTCA) n.578_588delinsATTCA c.205_215delinsATTCA (p.Gly69_Leu72delinsIleGln) | |
| 17 | g.7676039_7676041del | CA645589278 | TP53 | c.329_331del (p.Arg110del) c.-21-804_-21-802del (n.-21-804_-21-802del) c.96+342_96+344del (n.96+342_96+344del) n.585_587del c.212_214del (p.Arg71del) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676038_7676042del | CA2499224978 | TP53 | c.327_331del (p.Arg110GlyfsTer?) c.-21-806_-21-802del (n.-21-806_-21-802del) c.96+340_96+344del (n.96+340_96+344del) n.583_587del c.210_214del (p.Arg71GlyfsTer?) c.327_331del (p.Arg110ValfsTer26) | dbSNP |
| 17 | g.7676040_7676043del | CA645589277 | TP53 | c.328_331del (p.Arg110TrpfsTer12) c.-21-805_-21-802del (n.-21-805_-21-802del) c.96+341_96+344del (n.96+341_96+344del) n.584_587del c.211_214del (p.Arg71TrpfsTer12) c.328_331del (p.Arg110CysfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676038_7676045delinsTTT | CA2245933138 | TP53 | c.324_331delinsAAA (p.Phe109AsnfsTer?) c.-21-809_-21-802delinsAAA (n.-21-809_-21-802delinsAAA) c.96+337_96+344delinsAAA (n.96+337_96+344delinsAAA) n.580_587delinsAAA c.207_214delinsAAA (p.Phe70AsnfsTer?) c.324_331delinsAAA (p.Phe109AsnfsTer27) | ClinVar dbSNP |
| 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.7676039_7676040delinsAC | CA2245933163 | TP53 | c.329_330delinsGT (p.Arg110=) c.-21-804_-21-803delinsGT (n.-21-804_-21-803delinsGT) c.96+342_96+343delinsGT (n.96+342_96+343delinsGT) n.585_586delinsGT c.212_213delinsGT (p.Arg71=) | |
| 17 | g.7676039_7676040delinsGG | CA915949545 | TP53 | c.329_330delinsCC (p.Arg110Pro) c.-21-804_-21-803delinsCC (n.-21-804_-21-803delinsCC) c.96+342_96+343delinsCC (n.96+342_96+343delinsCC) n.585_586delinsCC c.212_213delinsCC (p.Arg71Pro) | ClinVar dbSNP |
| 17 | g.7676041_7676046del | CA645589280 | TP53 | c.325_330del (p.Phe109_Arg110del) c.-21-808_-21-803del (n.-21-808_-21-803del) c.96+338_96+343del (n.96+338_96+343del) n.581_586del c.208_213del (p.Phe70_Arg71del) | gnomAD v4 COSMIC |
| 17 | g.7676040_7676050del | CA645589281 | TP53 | c.320_330del (p.Tyr107SerfsTer?) c.-21-813_-21-803del (n.-21-813_-21-803del) c.96+333_96+343del (n.96+333_96+343del) n.576_586del c.203_213del (p.Tyr68SerfsTer?) c.320_330del (p.Tyr107SerfsTer27) | COSMIC |
| 17 | g.7676039_7676059delinsACGGAAACCGTAGCTGCCCTG | CA2245933165 | TP53 | c.310_330delinsCAGGGCAGCTACGGTTTCCGT (p.Gln104=) c.-21-823_-21-803delinsCAGGGCAGCTACGGTTTCCGT (n.-21-823_-21-803delinsCAGGGCAGCTACGGTTTCCGT) c.96+323_96+343delinsCAGGGCAGCTACGGTTTCCGT (n.96+323_96+343delinsCAGGGCAGCTACGGTTTCCGT) n.566_586delinsCAGGGCAGCTACGGTTTCCGT c.193_213delinsCAGGGCAGCTACGGTTTCCGT (p.Gln65=) | |
| 17 | g.7676040del | CA501094 | TP53 | c.329del (p.Arg110LeufsTer13) c.-21-804del (n.-21-804del) c.96+342del (n.96+342del) n.585del c.212del (p.Arg71LeufsTer13) c.329del (p.Arg110LeufsTer?) | COSMIC COSMIC COSMIC |
| 17 | g.7676040C>A | CA002845 | TP53 | c.329G>T (p.Arg110Leu) c.-21-804G>T (n.-21-804G>T) c.96+342G>T (n.96+342G>T) n.585G>T c.212G>T (p.Arg71Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676040C= | CA2245933214 | TP53 | c.329G= (p.Arg110=) c.-21-804G= (n.-21-804G=) c.96+342G= (n.96+342G=) n.585G= c.212G= (p.Arg71=) | |
| 17 | g.7676040C>G | CA10580948 | TP53 | c.329G>C (p.Arg110Pro) c.-21-804G>C (n.-21-804G>C) c.96+342G>C (n.96+342G>C) n.585G>C c.212G>C (p.Arg71Pro) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676040C>T | CA000123 | TP53 | c.329G>A (p.Arg110His) c.-21-804G>A (n.-21-804G>A) c.96+342G>A (n.96+342G>A) n.585G>A c.212G>A (p.Arg71His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7676040_7676041delinsA | CA2695223131 | TP53 | c.328_329delinsT (p.Arg110PhefsTer13) c.-21-805_-21-804delinsT (n.-21-805_-21-804delinsT) c.96+341_96+342delinsT (n.96+341_96+342delinsT) n.584_585delinsT c.211_212delinsT (p.Arg71PhefsTer13) c.328_329delinsT (p.Arg110PhefsTer?) | |
| 17 | g.7676040_7676041delinsCG | CA2245933202 | TP53 | c.328_329delinsCG (p.Arg110=) c.-21-805_-21-804delinsCG (n.-21-805_-21-804delinsCG) c.96+341_96+342delinsCG (n.96+341_96+342delinsCG) n.584_585delinsCG c.211_212delinsCG (p.Arg71=) | |
| 17 | g.7676040_7676042delinsCGG | CA2245933200 | TP53 | c.327_329delinsCCG (p.Phe109=) c.-21-806_-21-804delinsCCG (n.-21-806_-21-804delinsCCG) c.96+340_96+342delinsCCG (n.96+340_96+342delinsCCG) n.583_585delinsCCG c.210_212delinsCCG (p.Phe70=) | |
| 17 | g.7676040_7676044delinsCGGAA | CA2245933197 | TP53 | c.325_329delinsTTCCG (p.Phe109=) c.-21-808_-21-804delinsTTCCG (n.-21-808_-21-804delinsTTCCG) c.96+338_96+342delinsTTCCG (n.96+338_96+342delinsTTCCG) n.581_585delinsTTCCG c.208_212delinsTTCCG (p.Phe70=) | |
| 17 | g.7676040_7676045delinsCGGAAA | CA2245933198 | TP53 | c.324_329delinsTTTCCG (p.Gly108=) c.-21-809_-21-804delinsTTTCCG (n.-21-809_-21-804delinsTTTCCG) c.96+337_96+342delinsTTTCCG (n.96+337_96+342delinsTTTCCG) n.580_585delinsTTTCCG c.207_212delinsTTTCCG (p.Gly69=) | |
| 17 | g.7676045_7676046insGCGGAAA | CA2695223130 | TP53 | c.329_330insCTTTCCG (p.Leu111PhefsTer?) c.-21-804_-21-803insCTTTCCG (n.-21-804_-21-803insCTTTCCG) c.96+342_96+343insCTTTCCG (n.96+342_96+343insCTTTCCG) n.585_586insCTTTCCG c.212_213insCTTTCCG (p.Leu72PhefsTer?) c.329_330insCTTTCCG (p.Leu111PhefsTer29) |