WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.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.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.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.7676020dup | CA645589259 | TP53 | c.351dup (p.Thr118AspfsTer?) c.-21-782dup (n.-21-782dup) c.96+364dup (n.96+364dup) c.351dup (p.Thr118AspfsTer24) n.607dup c.234dup (p.Thr79AspfsTer?) c.340+7dup (n.340+7dup) | COSMIC |
| 17 | g.7676020del | CA497925873 | TP53 | c.351del (p.Thr118GlnfsTer5) c.-21-782del (n.-21-782del) c.96+364del (n.96+364del) n.607del c.234del (p.Thr79GlnfsTer5) c.340+7del (n.340+7del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676018_7676037delinsAG | CA2580095093 | TP53 | c.332_351delinsCT (p.Leu111_Gly117delinsPro) c.-21-801_-21-782delinsCT (n.-21-801_-21-782delinsCT) c.96+345_96+364delinsCT (n.96+345_96+364delinsCT) n.588_607delinsCT c.215_234delinsCT (p.Leu72_Gly78delinsPro) c.332_340+7delinsCT | ClinVar |
| 17 | g.7676024_7676039del | CA2581463471 | TP53 | c.336_351del (p.Phe113GlnfsTer5) c.-21-797_-21-782del (n.-21-797_-21-782del) c.96+349_96+364del (n.96+349_96+364del) n.592_607del c.219_234del (p.Phe74GlnfsTer5) c.334-2_340+7del | |
| 17 | g.7676019C>A | CA397844396 | TP53 | c.350G>T (p.Gly117Val) c.-21-783G>T (n.-21-783G>T) c.96+363G>T (n.96+363G>T) n.606G>T c.233G>T (p.Gly78Val) c.340+6G>T (n.340+6G>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676019C= | CA2245932752 | TP53 | c.350G= (p.Gly117=) c.-21-783G= (n.-21-783G=) c.96+363G= (n.96+363G=) n.606G= c.233G= (p.Gly78=) c.340+6G= (n.340+6G=) | |
| 17 | g.7676019C>G | CA397844402 | TP53 | c.350G>C (p.Gly117Ala) c.-21-783G>C (n.-21-783G>C) c.96+363G>C (n.96+363G>C) n.606G>C c.233G>C (p.Gly78Ala) c.340+6G>C (n.340+6G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7676019C>T | CA002816 | TP53 | c.350G>A (p.Gly117Glu) c.-21-783G>A (n.-21-783G>A) c.96+363G>A (n.96+363G>A) n.606G>A c.233G>A (p.Gly78Glu) c.340+6G>A (n.340+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7676021_7676035del | CA645589260 | TP53 | c.336_350del (p.Phe113_Gly117del) c.-21-797_-21-783del (n.-21-797_-21-783del) c.96+349_96+363del (n.96+349_96+363del) n.592_606del c.219_233del (p.Phe74_Gly78del) c.334-2_340+6del | ClinVar COSMIC |
| 17 | g.7676020C>A | CA397844404 | TP53 | c.349G>T (p.Gly117Trp) c.-21-784G>T (n.-21-784G>T) c.96+362G>T (n.96+362G>T) n.605G>T c.232G>T (p.Gly78Trp) c.340+5G>T (n.340+5G>T) | dbSNP |
| 17 | g.7676020C= | CA2245932763 | TP53 | c.349G= (p.Gly117=) c.-21-784G= (n.-21-784G=) c.96+362G= (n.96+362G=) n.605G= c.232G= (p.Gly78=) c.340+5G= (n.340+5G=) | |
| 17 | g.7676020C>G | CA397844409 | TP53 | c.349G>C (p.Gly117Arg) c.-21-784G>C (n.-21-784G>C) c.96+362G>C (n.96+362G>C) n.605G>C c.232G>C (p.Gly78Arg) c.340+5G>C (n.340+5G>C) | ClinVar dbSNP COSMIC |
| 17 | g.7676020C>T | CA397844412 | TP53 | c.349G>A (p.Gly117Arg) c.-21-784G>A (n.-21-784G>A) c.96+362G>A (n.96+362G>A) n.605G>A c.232G>A (p.Gly78Arg) c.340+5G>A (n.340+5G>A) | ClinVar dbSNP |
| 17 | g.7676021A= | CA2245932769 | TP53 | c.348T= (p.Ser116=) c.-21-785T= (n.-21-785T=) c.96+361T= (n.96+361T=) n.604T= c.231T= (p.Ser77=) c.340+4T= (n.340+4T=) | |
| 17 | g.7676021A>C | CA497925875 | TP53 | c.348T>G (p.Ser116=) c.-21-785T>G (n.-21-785T>G) c.96+361T>G (n.96+361T>G) n.604T>G c.231T>G (p.Ser77=) c.340+4T>G (n.340+4T>G) | |
| 17 | g.7676021A>G | CA497925877 | TP53 | c.348T>C (p.Ser116=) c.-21-785T>C (n.-21-785T>C) c.96+361T>C (n.96+361T>C) n.604T>C c.231T>C (p.Ser77=) c.340+4T>C (n.340+4T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7676021A>T | CA497925876 | TP53 | c.348T>A (p.Ser116=) c.-21-785T>A (n.-21-785T>A) c.96+361T>A (n.96+361T>A) n.604T>A c.231T>A (p.Ser77=) c.340+4T>A (n.340+4T>A) | dbSNP |
| 17 | g.7676022G>A | CA397844419 | TP53 | c.347C>T (p.Ser116Phe) c.-21-786C>T (n.-21-786C>T) c.96+360C>T (n.96+360C>T) n.603C>T c.230C>T (p.Ser77Phe) c.340+3C>T (n.340+3C>T) | dbSNP COSMIC |
| 17 | g.7676022G>C | CA397844423 | TP53 | c.347C>G (p.Ser116Cys) c.-21-786C>G (n.-21-786C>G) c.96+360C>G (n.96+360C>G) n.603C>G c.230C>G (p.Ser77Cys) c.340+3C>G (n.340+3C>G) | dbSNP COSMIC |
| 17 | g.7676022G= | CA2245932781 | TP53 | c.347C= (p.Ser116=) c.-21-786C= (n.-21-786C=) c.96+360C= (n.96+360C=) n.603C= c.230C= (p.Ser77=) c.340+3C= (n.340+3C=) | |
| 17 | g.7676022G>T | CA397844430 | TP53 | c.347C>A (p.Ser116Tyr) c.-21-786C>A (n.-21-786C>A) c.96+360C>A (n.96+360C>A) n.603C>A c.230C>A (p.Ser77Tyr) c.340+3C>A (n.340+3C>A) | |
| 17 | g.7676023A= | CA2245932790 | TP53 | c.346T= (p.Ser116=) c.-21-787T= (n.-21-787T=) c.96+359T= (n.96+359T=) n.602T= c.229T= (p.Ser77=) c.340+2T= (n.340+2T=) | |
| 17 | g.7676023A>C | CA287488988 | TP53 | c.346T>G (p.Ser116Ala) c.-21-787T>G (n.-21-787T>G) c.96+359T>G (n.96+359T>G) n.602T>G c.229T>G (p.Ser77Ala) c.340+2T>G (n.340+2T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7676023A>G | CA397844434 | TP53 | c.346T>C (p.Ser116Pro) c.-21-787T>C (n.-21-787T>C) c.96+359T>C (n.96+359T>C) n.602T>C c.229T>C (p.Ser77Pro) c.340+2T>C (n.340+2T>C) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676023A>T | CA397844437 | TP53 | c.346T>A (p.Ser116Thr) c.-21-787T>A (n.-21-787T>A) c.96+359T>A (n.96+359T>A) n.602T>A c.229T>A (p.Ser77Thr) c.340+2T>A (n.340+2T>A) | dbSNP |
| 17 | g.7676024del | CA2582342972 | TP53 | c.346del (p.Ser116LeufsTer7) c.-21-787del (n.-21-787del) c.96+359del (n.96+359del) n.602del c.229del (p.Ser77LeufsTer7) c.340+2del (n.340+2del) | |
| 17 | g.7676023_7676029dup | CA658824567 | TP53 | c.340_346dup (p.Ser116PhefsTer?) c.-21-793_-21-787dup (n.-21-793_-21-787dup) c.96+353_96+359dup (n.96+353_96+359dup) c.340_346dup (p.Ser116PhefsTer28) n.596_602dup c.223_229dup (p.Ser77PhefsTer?) c.336_340+2dup | ClinVar dbSNP |
| 17 | g.7676023_7676035del | CA645589261 | TP53 | c.334_346del (p.Gly112LeufsTer7) c.-21-799_-21-787del (n.-21-799_-21-787del) c.96+347_96+359del (n.96+347_96+359del) n.590_602del c.217_229del (p.Gly73LeufsTer7) c.333+1_340+2del | COSMIC |
| 17 | g.7676024A= | CA2245932814 | TP53 | c.345T= (p.His115=) c.-21-788T= (n.-21-788T=) c.96+358T= (n.96+358T=) n.601T= c.228T= (p.His76=) c.340+1T= (n.340+1T=) | |
| 17 | g.7676024A>C | CA397844441 | TP53 | c.345T>G (p.His115Gln) c.-21-788T>G (n.-21-788T>G) c.96+358T>G (n.96+358T>G) n.601T>G c.228T>G (p.His76Gln) c.340+1T>G (n.340+1T>G) | |
| 17 | g.7676024A>G | CA397844443 | TP53 | c.345T>C (p.His115=) c.-21-788T>C (n.-21-788T>C) c.96+358T>C (n.96+358T>C) n.601T>C c.228T>C (p.His76=) c.340+1T>C (n.340+1T>C) | ClinVar dbSNP |
| 17 | g.7676024A>T | CA397844445 | TP53 | c.345T>A (p.His115Gln) c.-21-788T>A (n.-21-788T>A) c.96+358T>A (n.96+358T>A) n.601T>A c.228T>A (p.His76Gln) c.340+1T>A (n.340+1T>A) |