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.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_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.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.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.7676101_7676116del | CA645589331 | TP53 | c.257_272del (p.Ala86GlyfsTer?) c.-21-876_-21-861del (n.-21-876_-21-861del) c.96+270_96+285del (n.96+270_96+285del) n.513_528del c.140_155del (p.Ala47GlyfsTer?) | COSMIC |
| 17 | g.7676098_7676109delinsAGGAGGGGGCTG | CA2245934044 | TP53 | c.260_271delinsCAGCCCCCTCCT (p.Pro87=) c.-21-873_-21-862delinsCAGCCCCCTCCT (n.-21-873_-21-862delinsCAGCCCCCTCCT) c.96+273_96+284delinsCAGCCCCCTCCT (n.96+273_96+284delinsCAGCCCCCTCCT) n.516_527delinsCAGCCCCCTCCT c.143_154delinsCAGCCCCCTCCT (p.Pro48=) | |
| 17 | g.7676101_7676104del | CA2695223136 | TP53 | c.267_270del (p.Ser90GlyfsTer?) c.-21-866_-21-863del (n.-21-866_-21-863del) c.96+280_96+283del (n.96+280_96+283del) n.523_526del c.150_153del (p.Ser51GlyfsTer?) | |
| 17 | g.7676101_7676110del | CA645589335 | TP53 | c.261_270del (p.Ala88GlyfsTer?) c.-21-872_-21-863del (n.-21-872_-21-863del) c.96+274_96+283del (n.96+274_96+283del) n.517_526del c.144_153del (p.Ala49GlyfsTer?) | ClinVar COSMIC COSMIC COSMIC |
| 17 | g.7676100_7676110del | CA913191058 | TP53 | c.260_270del (p.Pro87LeufsTer?) c.-21-873_-21-863del (n.-21-873_-21-863del) c.96+273_96+283del (n.96+273_96+283del) n.516_526del c.143_153del (p.Pro48LeufsTer?) | ClinVar dbSNP |
| 17 | g.7676101_7676117del | CA645589333 | TP53 | c.254_270del (p.Pro85LeufsTer?) c.-21-879_-21-863del (n.-21-879_-21-863del) c.96+267_96+283del (n.96+267_96+283del) n.510_526del c.137_153del (p.Pro46LeufsTer?) | COSMIC |
| 17 | g.7676099_7676143del | CA645589334 | TP53 | c.226_270del (p.Ala76_Ser90del) c.-21-907_-21-863del (n.-21-907_-21-863del) c.96+239_96+283del (n.96+239_96+283del) n.482_526del c.109_153del (p.Ala37_Ser51del) | COSMIC |
| 17 | g.7676100_7676101delinsAG | CA645589336 | TP53 | c.268_269delinsCT (p.Ser90Leu) c.-21-865_-21-864delinsCT (n.-21-865_-21-864delinsCT) c.96+281_96+282delinsCT (n.96+281_96+282delinsCT) n.524_525delinsCT c.151_152delinsCT (p.Ser51Leu) | COSMIC |
| 17 | g.7676101del | CA645589337 | TP53 | c.268del (p.Ser90ProfsTer?) c.-21-865del (n.-21-865del) c.96+281del (n.96+281del) n.524del c.151del (p.Ser51ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676101A>C | CA397845221 | TP53 | c.268T>G (p.Ser90Ala) c.-21-865T>G (n.-21-865T>G) c.96+281T>G (n.96+281T>G) n.524T>G c.151T>G (p.Ser51Ala) | |
| 17 | g.7676101A>G | CA397845224 | TP53 | c.268T>C (p.Ser90Pro) c.-21-865T>C (n.-21-865T>C) c.96+281T>C (n.96+281T>C) n.524T>C c.151T>C (p.Ser51Pro) | |
| 17 | g.7676101A>T | CA397845227 | TP53 | c.268T>A (p.Ser90Thr) c.-21-865T>A (n.-21-865T>A) c.96+281T>A (n.96+281T>A) n.524T>A c.151T>A (p.Ser51Thr) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676101_7676102delinsAG | CA2245934067 | TP53 | c.267_268delinsCT (p.Pro89=) c.-21-866_-21-865delinsCT (n.-21-866_-21-865delinsCT) c.96+280_96+281delinsCT (n.96+280_96+281delinsCT) n.523_524delinsCT c.150_151delinsCT (p.Pro50=) | |
| 17 | g.7676105_7676106insCAGGGGCAGGGGCCAGGAGGGGCAGGGG | CA2580612886 | TP53 | c.268_269insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (p.Ser90CysfsTer?) c.-21-865_-21-864insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (n.-21-865_-21-864insGCCCCTCCTGGCCCCTGCCCCTGCCCCT) c.96+281_96+282insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (n.96+281_96+282insGCCCCTCCTGGCCCCTGCCCCTGCCCCT) n.524_525insGCCCCTCCTGGCCCCTGCCCCTGCCCCT c.151_152insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (p.Ser51CysfsTer?) | dbSNP |
| 17 | g.7676106_7676118del | CA645589338 | TP53 | c.256_268del (p.Ala86ProfsTer?) c.-21-877_-21-865del (n.-21-877_-21-865del) c.96+269_96+281del (n.96+269_96+281del) n.512_524del c.139_151del (p.Ala47ProfsTer?) | COSMIC |
| 17 | g.7676102G>A | CA000090 | TP53 | c.267C>T (p.Pro89=) c.-21-866C>T (n.-21-866C>T) c.96+280C>T (n.96+280C>T) n.523C>T c.150C>T (p.Pro50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7676102G>C | CA497925934 | TP53 | c.267C>G (p.Pro89=) c.-21-866C>G (n.-21-866C>G) c.96+280C>G (n.96+280C>G) n.523C>G c.150C>G (p.Pro50=) | dbSNP |
| 17 | g.7676102G= | CA2245934111 | TP53 | c.267C= (p.Pro89=) c.-21-866C= (n.-21-866C=) c.96+280C= (n.96+280C=) n.523C= c.150C= (p.Pro50=) | |
| 17 | g.7676102G>T | CA16607525 | TP53 | c.267C>A (p.Pro89=) c.-21-866C>A (n.-21-866C>A) c.96+280C>A (n.96+280C>A) n.523C>A c.150C>A (p.Pro50=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7676106dup | CA645589339 | TP53 | c.267dup (p.Ser90LeufsTer?) c.-21-866dup (n.-21-866dup) c.96+280dup (n.96+280dup) n.523dup c.150dup (p.Ser51LeufsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676106del | CA000091 | TP53 | c.267del (p.Ser90ProfsTer?) c.-21-866del (n.-21-866del) c.96+280del (n.96+280del) n.523del c.150del (p.Ser51ProfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676105_7676118del | CA645589340 | TP53 | c.254_267del (p.Pro85LeufsTer?) c.-21-879_-21-866del (n.-21-879_-21-866del) c.96+267_96+280del (n.96+267_96+280del) n.510_523del c.137_150del (p.Pro46LeufsTer?) | COSMIC |
| 17 | g.7676102_7676103insC | CA497925935 | TP53 | c.266_267insG (p.Ser90LeufsTer?) c.-21-867_-21-866insG (n.-21-867_-21-866insG) c.96+279_96+280insG (n.96+279_96+280insG) n.522_523insG c.149_150insG (p.Ser51LeufsTer?) | |
| 17 | g.7676103G>A | CA000089 | TP53 | c.266C>T (p.Pro89Leu) c.-21-867C>T (n.-21-867C>T) c.96+279C>T (n.96+279C>T) n.522C>T c.149C>T (p.Pro50Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7676103G>C | CA397845248 | TP53 | c.266C>G (p.Pro89Arg) c.-21-867C>G (n.-21-867C>G) c.96+279C>G (n.96+279C>G) n.522C>G c.149C>G (p.Pro50Arg) | dbSNP |
| 17 | g.7676103G= | CA2245934130 | TP53 | c.266C= (p.Pro89=) c.-21-867C= (n.-21-867C=) c.96+279C= (n.96+279C=) n.522C= c.149C= (p.Pro50=) | |
| 17 | g.7676103G>T | CA397845250 | TP53 | c.266C>A (p.Pro89His) c.-21-867C>A (n.-21-867C>A) c.96+279C>A (n.96+279C>A) n.522C>A c.149C>A (p.Pro50His) | dbSNP |
| 17 | g.7676103_7676104delinsAA | CA645589341 | TP53 | c.265_266delinsTT (p.Pro89Phe) c.-21-868_-21-867delinsTT (n.-21-868_-21-867delinsTT) c.96+278_96+279delinsTT (n.96+278_96+279delinsTT) n.521_522delinsTT c.148_149delinsTT (p.Pro50Phe) | COSMIC |
| 17 | g.7676103_7676104insC | CA497925936 | TP53 | c.265_266insG (p.Pro89ArgfsTer?) c.-21-868_-21-867insG (n.-21-868_-21-867insG) c.96+278_96+279insG (n.96+278_96+279insG) n.521_522insG c.148_149insG (p.Pro50ArgfsTer?) | |
| 17 | g.7676104G>A | CA397845278 | TP53 | c.265C>T (p.Pro89Ser) c.-21-868C>T (n.-21-868C>T) c.96+278C>T (n.96+278C>T) n.521C>T c.148C>T (p.Pro50Ser) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7676104G>C | CA397845274 | TP53 | c.265C>G (p.Pro89Ala) c.-21-868C>G (n.-21-868C>G) c.96+278C>G (n.96+278C>G) n.521C>G c.148C>G (p.Pro50Ala) |