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.7675982_7676013del | CA645589229 | TP53 | c.356_375+12del c.-21-777_-21-746del (n.-21-777_-21-746del) c.96+369_96+400del (n.96+369_96+400del) n.612_631+12del c.239_258+12del c.340+12_340+43del (n.340+12_340+43del) | COSMIC COSMIC COSMIC COSMIC 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_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.7676007_7676026del | CA645589250 | TP53 | c.343_362del (p.His115CysfsTer27) c.-21-790_-21-771del (n.-21-790_-21-771del) c.96+356_96+375del (n.96+356_96+375del) c.343_362del (p.His115CysfsTer20) c.343_362del (p.His115CysfsTer?) n.599_618del c.226_245del (p.His76CysfsTer27) c.339_340+18del | COSMIC |
| 17 | g.7676008_7676018del | CA645589251 | TP53 | c.351_361del (p.Thr118CysfsTer27) c.-21-782_-21-772del (n.-21-782_-21-772del) c.96+364_96+374del (n.96+364_96+374del) c.351_361del (p.Thr118CysfsTer20) c.351_361del (p.Thr118CysfsTer?) n.607_617del c.234_244del (p.Thr79CysfsTer27) c.340+7_340+17del (n.340+7_340+17del) | COSMIC |
| 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.7676011_7676012delinsTG | CA2245932689 | TP53 | c.357_358delinsCA (p.Ala119=) c.-21-776_-21-775delinsCA (n.-21-776_-21-775delinsCA) c.96+370_96+371delinsCA (n.96+370_96+371delinsCA) n.613_614delinsCA c.240_241delinsCA (p.Ala80=) c.340+13_340+14delinsCA (n.340+13_340+14delinsCA) | |
| 17 | g.7676012G>A | CA497925866 | TP53 | c.357C>T (p.Ala119=) c.-21-776C>T (n.-21-776C>T) c.96+370C>T (n.96+370C>T) n.613C>T c.240C>T (p.Ala80=) c.340+13C>T (n.340+13C>T) | dbSNP |
| 17 | g.7676012G>C | CA497925864 | TP53 | c.357C>G (p.Ala119=) c.-21-776C>G (n.-21-776C>G) c.96+370C>G (n.96+370C>G) n.613C>G c.240C>G (p.Ala80=) c.340+13C>G (n.340+13C>G) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676012G>T | CA497925865 | TP53 | c.357C>A (p.Ala119=) c.-21-776C>A (n.-21-776C>A) c.96+370C>A (n.96+370C>A) n.613C>A c.240C>A (p.Ala80=) c.340+13C>A (n.340+13C>A) | dbSNP COSMIC COSMIC COSMIC |
| 17 | g.7676013del | CA645589254 | TP53 | c.357del (p.Lys120SerfsTer3) c.-21-776del (n.-21-776del) c.96+370del (n.96+370del) n.613del c.240del (p.Lys81SerfsTer3) c.340+13del (n.340+13del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676013G>A | CA397844354 | TP53 | c.356C>T (p.Ala119Val) c.-21-777C>T (n.-21-777C>T) c.96+369C>T (n.96+369C>T) n.612C>T c.239C>T (p.Ala80Val) c.340+12C>T (n.340+12C>T) | dbSNP |
| 17 | g.7676013G>C | CA397844357 | TP53 | c.356C>G (p.Ala119Gly) c.-21-777C>G (n.-21-777C>G) c.96+369C>G (n.96+369C>G) n.612C>G c.239C>G (p.Ala80Gly) c.340+12C>G (n.340+12C>G) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676013G= | CA2245932722 | TP53 | c.356C= (p.Ala119=) c.-21-777C= (n.-21-777C=) c.96+369C= (n.96+369C=) n.612C= c.239C= (p.Ala80=) c.340+12C= (n.340+12C=) | |
| 17 | g.7676013G>T | CA397844368 | TP53 | c.356C>A (p.Ala119Asp) c.-21-777C>A (n.-21-777C>A) c.96+369C>A (n.96+369C>A) n.612C>A c.239C>A (p.Ala80Asp) c.340+12C>A (n.340+12C>A) | ClinVar dbSNP COSMIC |
| 17 | g.7676014C>A | CA397844370 | TP53 | c.355G>T (p.Ala119Ser) c.-21-778G>T (n.-21-778G>T) c.96+368G>T (n.96+368G>T) n.611G>T c.238G>T (p.Ala80Ser) c.340+11G>T (n.340+11G>T) | dbSNP |
| 17 | g.7676014C= | CA2245932726 | TP53 | c.355G= (p.Ala119=) c.-21-778G= (n.-21-778G=) c.96+368G= (n.96+368G=) n.611G= c.238G= (p.Ala80=) c.340+11G= (n.340+11G=) | |
| 17 | g.7676014C>G | CA397844371 | TP53 | c.355G>C (p.Ala119Pro) c.-21-778G>C (n.-21-778G>C) c.96+368G>C (n.96+368G>C) n.611G>C c.238G>C (p.Ala80Pro) c.340+11G>C (n.340+11G>C) | ClinVar dbSNP |
| 17 | g.7676014C>T | CA397844372 | TP53 | c.355G>A (p.Ala119Thr) c.-21-778G>A (n.-21-778G>A) c.96+368G>A (n.96+368G>A) n.611G>A c.238G>A (p.Ala80Thr) c.340+11G>A (n.340+11G>A) | dbSNP gnomAD v4 |
| 17 | g.7676015del | CA2580095091 | TP53 | c.354del (p.Ala119ProfsTer4) c.-21-779del (n.-21-779del) c.96+367del (n.96+367del) n.610del c.237del (p.Ala80ProfsTer4) c.340+10del (n.340+10del) | ClinVar |
| 17 | g.7676015T>A | CA000128 | TP53 | c.354A>T (p.Thr118=) c.-21-779A>T (n.-21-779A>T) c.96+367A>T (n.96+367A>T) n.610A>T c.237A>T (p.Thr79=) c.340+10A>T (n.340+10A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7676015T>C | CA497925867 | TP53 | c.354A>G (p.Thr118=) c.-21-779A>G (n.-21-779A>G) c.96+367A>G (n.96+367A>G) n.610A>G c.237A>G (p.Thr79=) c.340+10A>G (n.340+10A>G) | ClinVar dbSNP COSMIC |
| 17 | g.7676015T>G | CA497925868 | TP53 | c.354A>C (p.Thr118=) c.-21-779A>C (n.-21-779A>C) c.96+367A>C (n.96+367A>C) n.610A>C c.237A>C (p.Thr79=) c.340+10A>C (n.340+10A>C) | |
| 17 | g.7676015T= | CA2245932727 | TP53 | c.354A= (p.Thr118=) c.-21-779A= (n.-21-779A=) c.96+367A= (n.96+367A=) n.610A= c.237A= (p.Thr79=) c.340+10A= (n.340+10A=) | |
| 17 | g.7676016_7676017dup | CA645589256 | TP53 | c.353_354dup (p.Ala119GlnfsTer5) c.-21-780_-21-779dup (n.-21-780_-21-779dup) c.96+366_96+367dup (n.96+366_96+367dup) n.609_610dup c.236_237dup (p.Ala80GlnfsTer5) c.340+9_340+10dup (n.340+9_340+10dup) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676018_7676019insTTGTC | CA645589257 | TP53 | c.354_355insAGACA (p.Ala119ArgfsTer6) c.-21-779_-21-778insAGACA (n.-21-779_-21-778insAGACA) c.96+367_96+368insAGACA (n.96+367_96+368insAGACA) n.610_611insAGACA c.237_238insAGACA (p.Ala80ArgfsTer6) c.340+10_340+11insAGACA (n.340+10_340+11insAGACA) | COSMIC |
| 17 | g.7676015_7676028del | CA645589255 | TP53 | c.341_354del (p.Leu114CysfsTer30) c.-21-792_-21-779del (n.-21-792_-21-779del) c.96+354_96+367del (n.96+354_96+367del) c.341_354del (p.Leu114CysfsTer23) c.341_354del (p.Leu114CysfsTer?) n.597_610del c.224_237del (p.Leu75CysfsTer30) c.337_340+10del | COSMIC |
| 17 | g.7676016G>A | CA16620635 | TP53 | c.353C>T (p.Thr118Ile) c.-21-780C>T (n.-21-780C>T) c.96+366C>T (n.96+366C>T) n.609C>T c.236C>T (p.Thr79Ile) c.340+9C>T (n.340+9C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676016G>C | CA397844383 | TP53 | c.353C>G (p.Thr118Arg) c.-21-780C>G (n.-21-780C>G) c.96+366C>G (n.96+366C>G) n.609C>G c.236C>G (p.Thr79Arg) c.340+9C>G (n.340+9C>G) | dbSNP COSMIC |
| 17 | g.7676016G= | CA2245932734 | TP53 | c.353C= (p.Thr118=) c.-21-780C= (n.-21-780C=) c.96+366C= (n.96+366C=) n.609C= c.236C= (p.Thr79=) c.340+9C= (n.340+9C=) | |
| 17 | g.7676016G>T | CA397844381 | TP53 | c.353C>A (p.Thr118Lys) c.-21-780C>A (n.-21-780C>A) c.96+366C>A (n.96+366C>A) n.609C>A c.236C>A (p.Thr79Lys) c.340+9C>A (n.340+9C>A) | dbSNP |
| 17 | g.7676017del | CA497925869 | TP53 | c.352del (p.Thr118GlnfsTer5) c.-21-781del (n.-21-781del) c.96+365del (n.96+365del) n.608del c.235del (p.Thr79GlnfsTer5) c.340+8del (n.340+8del) | COSMIC |
| 17 | g.7676017T>A | CA397844388 | TP53 | c.352A>T (p.Thr118Ser) c.-21-781A>T (n.-21-781A>T) c.96+365A>T (n.96+365A>T) n.608A>T c.235A>T (p.Thr79Ser) c.340+8A>T (n.340+8A>T) | |
| 17 | g.7676017T>C | CA397844390 | TP53 | c.352A>G (p.Thr118Ala) c.-21-781A>G (n.-21-781A>G) c.96+365A>G (n.96+365A>G) n.608A>G c.235A>G (p.Thr79Ala) c.340+8A>G (n.340+8A>G) | COSMIC |
| 17 | g.7676017T>G | CA397844392 | TP53 | c.352A>C (p.Thr118Pro) c.-21-781A>C (n.-21-781A>C) c.96+365A>C (n.96+365A>C) n.608A>C c.235A>C (p.Thr79Pro) c.340+8A>C (n.340+8A>C) | |
| 17 | g.7676017dup | CA645589258 | TP53 | c.352dup (p.Thr118AsnfsTer?) c.-21-781dup (n.-21-781dup) c.96+365dup (n.96+365dup) c.352dup (p.Thr118AsnfsTer24) n.608dup c.235dup (p.Thr79AsnfsTer?) c.340+8dup (n.340+8dup) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676017_7676024delinsGGCT | CA2580095092 | TP53 | c.345_352delinsAGCC (p.His115GlnfsTer7) c.-21-788_-21-781delinsAGCC (n.-21-788_-21-781delinsAGCC) c.96+358_96+365delinsAGCC (n.96+358_96+365delinsAGCC) n.601_608delinsAGCC c.228_235delinsAGCC (p.His76GlnfsTer7) c.340+1_340+8delinsAGCC (n.340+1_340+8delinsAGCC) | ClinVar |
| 17 | g.7676017_7676018insA | CA497925870 | TP53 | c.351_352insT (p.Thr118TyrfsTer?) c.-21-782_-21-781insT (n.-21-782_-21-781insT) c.96+364_96+365insT (n.96+364_96+365insT) c.351_352insT (p.Thr118TyrfsTer24) n.607_608insT c.234_235insT (p.Thr79TyrfsTer?) c.340+7_340+8insT (n.340+7_340+8insT) |