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.7673635_7673845del | CA645587395 | TP53 | c.783-8_920-27del c.387-8_524-27del c.504-8_641-27del c.762-8_899-27del c.782+336_782+546del (n.782+336_782+546del) c.666-8_803-27del c.306-8_443-27del c.750-8_887-27del | COSMIC |
| 17 | g.7673705_7673827del | CA645587414 | TP53 | c.794_916del (p.Leu265_Lys305del) c.398_520del (p.Leu133_Lys173del) c.515_637del (p.Leu172_Lys212del) c.773_895del (p.Leu258_Lys298del) c.782+355_782+477del (n.782+355_782+477del) c.677_799del (p.Leu226_Lys266del) c.317_439del (p.Leu106_Lys146del) c.761_883del (p.Leu254_Lys294del) | COSMIC |
| 17 | g.7673744_7673806del | CA645588318 | TP53 | c.815_877del (p.Val272_Lys292del) c.419_481del (p.Val140_Lys160del) c.536_598del (p.Val179_Lys199del) c.794_856del (p.Val265_Lys285del) c.782+376_782+438del (n.782+376_782+438del) c.698_760del (p.Val233_Lys253del) c.338_400del (p.Val113_Lys133del) c.782_844del (p.Val261_Lys281del) | COSMIC |
| 17 | g.7673768_7673794del | CA2499224958 | TP53 | c.827_853del (p.Ala276_Thr284del) c.431_457del (p.Ala144_Thr152del) c.548_574del (p.Ala183_Thr191del) c.806_832del (p.Ala269_Thr277del) c.782+388_782+414del (n.782+388_782+414del) c.710_736del (p.Ala237_Thr245del) c.350_376del (p.Ala117_Thr125del) c.794_820del (p.Ala265_Thr273del) | ClinVar dbSNP |
| 17 | g.7673767_7673798del | CA645588355 | TP53 | c.822_853del (p.Cys275GlyfsTer20) c.426_457del (p.Cys143GlyfsTer20) c.543_574del (p.Cys182GlyfsTer20) c.801_832del (p.Cys268GlyfsTer20) c.782+383_782+414del (n.782+383_782+414del) c.705_736del (p.Cys236GlyfsTer20) c.345_376del (p.Cys116GlyfsTer20) c.789_820del (p.Cys264GlyfsTer20) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673771_7673817del | CA645588356 | TP53 | c.807_853del (p.Ser269ArgfsTer21) c.411_457del (p.Ser137ArgfsTer21) c.528_574del (p.Ser176ArgfsTer21) c.786_832del (p.Ser262ArgfsTer21) c.782+368_782+414del (n.782+368_782+414del) c.690_736del (p.Ser230ArgfsTer21) c.330_376del (p.Ser110ArgfsTer21) c.774_820del (p.Ser258ArgfsTer21) | COSMIC |
| 17 | g.7673771_7673794del | CA645588362 | TP53 | c.826_849del (p.Ala276_Arg283del) c.430_453del (p.Ala144_Arg151del) c.547_570del (p.Ala183_Arg190del) c.805_828del (p.Ala269_Arg276del) c.782+387_782+410del (n.782+387_782+410del) c.709_732del (p.Ala237_Arg244del) c.349_372del (p.Ala117_Arg124del) c.793_816del (p.Ala265_Arg272del) | COSMIC |
| 17 | g.7673771_7673797del | CA645588361 | TP53 | c.823_849del (p.Cys275_Arg283del) c.427_453del (p.Cys143_Arg151del) c.544_570del (p.Cys182_Arg190del) c.802_828del (p.Cys268_Arg276del) c.782+384_782+410del (n.782+384_782+410del) c.706_732del (p.Cys236_Arg244del) c.346_372del (p.Cys116_Arg124del) c.790_816del (p.Cys264_Arg272del) | COSMIC |
| 17 | g.7673773_7673804del | CA891842226 | TP53 | c.818_849del (p.Arg273HisfsTer22) c.422_453del (p.Arg141HisfsTer22) c.539_570del (p.Arg180HisfsTer22) c.797_828del (p.Arg266HisfsTer22) c.782+379_782+410del (n.782+379_782+410del) c.701_732del (p.Arg234HisfsTer22) c.341_372del (p.Arg114HisfsTer22) c.785_816del (p.Arg262HisfsTer22) | |
| 17 | g.7673771_7673810del | CA891842227 | TP53 | c.810_849del (p.Phe270LeufsTer?) c.414_453del (p.Phe138LeufsTer?) c.531_570del (p.Phe177LeufsTer?) c.789_828del (p.Phe263LeufsTer?) c.782+371_782+410del (n.782+371_782+410del) c.693_732del (p.Phe231LeufsTer?) c.333_372del (p.Phe111LeufsTer?) c.777_816del (p.Phe259LeufsTer?) | |
| 17 | g.7673776_7673797delinsCGTCTCTCCGG | CA891842231 | TP53 | c.823_844delinsCCGGAGAGACG (p.Cys275ProfsTer27) c.427_448delinsCCGGAGAGACG (p.Cys143ProfsTer27) c.544_565delinsCCGGAGAGACG (p.Cys182ProfsTer27) c.802_823delinsCCGGAGAGACG (p.Cys268ProfsTer27) c.782+384_782+405delinsCCGGAGAGACG (n.782+384_782+405delinsCCGGAGAGACG) c.706_727delinsCCGGAGAGACG (p.Cys236ProfsTer27) c.346_367delinsCCGGAGAGACG (p.Cys116ProfsTer27) c.790_811delinsCCGGAGAGACG (p.Cys264ProfsTer27) | |
| 17 | g.7673778_7673813del | CA645588376 | TP53 | c.808_843del (p.Phe270_Asp281del) c.412_447del (p.Phe138_Asp149del) c.529_564del (p.Phe177_Asp188del) c.787_822del (p.Phe263_Asp274del) c.782+369_782+404del (n.782+369_782+404del) c.691_726del (p.Phe231_Asp242del) c.331_366del (p.Phe111_Asp122del) c.775_810del (p.Phe259_Asp270del) | COSMIC |
| 17 | g.7673779_7673794del | CA645588385 | TP53 | c.826_841del (p.Ala276ThrfsTer?) c.430_445del (p.Ala144ThrfsTer?) c.547_562del (p.Ala183ThrfsTer?) c.805_820del (p.Ala269ThrfsTer?) c.782+387_782+402del (n.782+387_782+402del) c.709_724del (p.Ala237ThrfsTer?) c.349_364del (p.Ala117ThrfsTer?) c.793_808del (p.Ala265ThrfsTer?) | COSMIC |
| 17 | g.7673780_7673794del | CA2695224225 | TP53 | c.827_841del (p.Ala276_Arg280del) c.431_445del (p.Ala144_Arg148del) c.548_562del (p.Ala183_Arg187del) c.806_820del (p.Ala269_Arg273del) c.782+388_782+402del (n.782+388_782+402del) c.710_724del (p.Ala237_Arg241del) c.350_364del (p.Ala117_Arg121del) c.794_808del (p.Ala265_Arg269del) | |
| 17 | g.7673788_7673827del | CA645588390 | TP53 | c.799_838del (p.Arg267GlufsTer?) c.403_442del (p.Arg135GlufsTer?) c.520_559del (p.Arg174GlufsTer?) c.778_817del (p.Arg260GlufsTer?) c.782+360_782+399del (n.782+360_782+399del) c.682_721del (p.Arg228GlufsTer?) c.322_361del (p.Arg108GlufsTer?) c.766_805del (p.Arg256GlufsTer?) | COSMIC |
| 17 | g.7673789_7673793del | CA2573154638 | TP53 | c.831_835del (p.Cys277TrpfsTer27) c.435_439del (p.Cys145TrpfsTer27) c.552_556del (p.Cys184TrpfsTer27) c.810_814del (p.Cys270TrpfsTer27) c.782+392_782+396del (n.782+392_782+396del) c.714_718del (p.Cys238TrpfsTer27) c.354_358del (p.Cys118TrpfsTer27) c.798_802del (p.Cys266TrpfsTer27) | ClinVar dbSNP |
| 17 | g.7673787_7673797del | CA658653549 | TP53 | c.825_835del (p.Cys275TrpfsTer27) c.429_439del (p.Cys143TrpfsTer27) c.546_556del (p.Cys182TrpfsTer27) c.804_814del (p.Cys268TrpfsTer27) c.782+386_782+396del (n.782+386_782+396del) c.708_718del (p.Cys236TrpfsTer27) c.348_358del (p.Cys116TrpfsTer27) c.792_802del (p.Cys264TrpfsTer27) | |
| 17 | g.7673787_7673801del | CA645588396 | TP53 | c.821_835del (p.Val274_Pro278del) c.425_439del (p.Val142_Pro146del) c.542_556del (p.Val181_Pro185del) c.800_814del (p.Val267_Pro271del) c.782+382_782+396del (n.782+382_782+396del) c.704_718del (p.Val235_Pro239del) c.344_358del (p.Val115_Pro119del) c.788_802del (p.Val263_Pro267del) | COSMIC |
| 17 | g.7673788_7673795delinsCACCT | CA2695224227 | TP53 | c.825_832delinsAGGTG (p.Cys275Ter) c.429_436delinsAGGTG (p.Cys143Ter) c.546_553delinsAGGTG (p.Cys182Ter) c.804_811delinsAGGTG (p.Cys268Ter) c.782+386_782+393delinsAGGTG (n.782+386_782+393delinsAGGTG) c.708_715delinsAGGTG (p.Cys236Ter) c.348_355delinsAGGTG (p.Cys116Ter) c.792_799delinsAGGTG (p.Cys264Ter) | |
| 17 | g.7673788_7673797del | CA645588400 | TP53 | c.823_832del (p.Cys275LeufsTer?) c.427_436del (p.Cys143LeufsTer?) c.544_553del (p.Cys182LeufsTer?) c.802_811del (p.Cys268LeufsTer?) c.782+384_782+393del (n.782+384_782+393del) c.706_715del (p.Cys236LeufsTer?) c.346_355del (p.Cys116LeufsTer?) c.790_799del (p.Cys264LeufsTer?) | COSMIC |
| 17 | g.7673789_7673792delinsACAG | CA2245949675 | TP53 | c.828_831delinsCTGT (p.Ala276=) c.432_435delinsCTGT (p.Ala144=) c.549_552delinsCTGT (p.Ala183=) c.807_810delinsCTGT (p.Ala269=) c.782+389_782+392delinsCTGT (n.782+389_782+392delinsCTGT) c.711_714delinsCTGT (p.Ala237=) c.351_354delinsCTGT (p.Ala117=) c.795_798delinsCTGT (p.Ala265=) | |
| 17 | g.7673792_7673797dup | CA891842232 | TP53 | c.826_831dup (p.Cys277_Pro278insAlaCys) c.430_435dup (p.Cys145_Pro146insAlaCys) c.547_552dup (p.Cys184_Pro185insAlaCys) c.805_810dup (p.Cys270_Pro271insAlaCys) c.782+387_782+392dup (n.782+387_782+392dup) c.709_714dup (p.Cys238_Pro239insAlaCys) c.349_354dup (p.Cys118_Pro119insAlaCys) c.793_798dup (p.Cys266_Pro267insAlaCys) | |
| 17 | g.7673792_7673797del | CA645588402 | TP53 | c.826_831del (p.Ala276_Cys277del) c.430_435del (p.Ala144_Cys145del) c.547_552del (p.Ala183_Cys184del) c.805_810del (p.Ala269_Cys270del) c.782+387_782+392del (n.782+387_782+392del) c.709_714del (p.Ala237_Cys238del) c.349_354del (p.Ala117_Cys118del) c.793_798del (p.Ala265_Cys266del) | COSMIC |
| 17 | g.7673791_7673806del | CA2573154639 | TP53 | c.816_831del (p.Arg273LeufsTer?) c.420_435del (p.Arg141LeufsTer?) c.537_552del (p.Arg180LeufsTer?) c.795_810del (p.Arg266LeufsTer?) c.782+377_782+392del (n.782+377_782+392del) c.699_714del (p.Arg234LeufsTer?) c.339_354del (p.Arg114LeufsTer?) c.783_798del (p.Arg262LeufsTer?) | ClinVar dbSNP |
| 17 | g.7673790_7673792delinsA | CA919785688 | TP53 | c.828_830delinsT (p.Cys277SerfsTer28) c.432_434delinsT (p.Cys145SerfsTer28) c.549_551delinsT (p.Cys184SerfsTer28) c.807_809delinsT (p.Cys270SerfsTer28) c.782+389_782+391delinsT (n.782+389_782+391delinsT) c.711_713delinsT (p.Cys238SerfsTer28) c.351_353delinsT (p.Cys118SerfsTer28) c.795_797delinsT (p.Cys266SerfsTer28) | dbSNP |
| 17 | g.7673790_7673792dup | CA645588404 | TP53 | c.828_830dup (p.Cys277_Pro278insCys) c.432_434dup (p.Cys145_Pro146insCys) c.549_551dup (p.Cys184_Pro185insCys) c.807_809dup (p.Cys270_Pro271insCys) c.782+389_782+391dup (n.782+389_782+391dup) c.711_713dup (p.Cys238_Pro239insCys) c.351_353dup (p.Cys118_Pro119insCys) c.795_797dup (p.Cys266_Pro267insCys) | ClinVar COSMIC COSMIC |
| 17 | g.7673792_7673795del | CA645588403 | TP53 | c.827_830del (p.Ala276ValfsTer?) c.431_434del (p.Ala144ValfsTer?) c.548_551del (p.Ala183ValfsTer?) c.806_809del (p.Ala269ValfsTer?) c.782+388_782+391del (n.782+388_782+391del) c.710_713del (p.Ala237ValfsTer?) c.350_353del (p.Ala117ValfsTer?) c.794_797del (p.Ala265ValfsTer?) | COSMIC |
| 17 | g.7673791A= | CA2245949701 | TP53 | c.829T= (p.Cys277=) c.433T= (p.Cys145=) c.550T= (p.Cys184=) c.808T= (p.Cys270=) c.782+390T= (n.782+390T=) c.712T= (p.Cys238=) c.352T= (p.Cys118=) c.796T= (p.Cys266=) | |
| 17 | g.7673791A>C | CA397836909 | TP53 | c.829T>G (p.Cys277Gly) c.433T>G (p.Cys145Gly) c.550T>G (p.Cys184Gly) c.808T>G (p.Cys270Gly) c.782+390T>G (n.782+390T>G) c.712T>G (p.Cys238Gly) c.352T>G (p.Cys118Gly) c.796T>G (p.Cys266Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673791A>G | CA16620617 | TP53 | c.829T>C (p.Cys277Arg) c.433T>C (p.Cys145Arg) c.550T>C (p.Cys184Arg) c.808T>C (p.Cys270Arg) c.782+390T>C (n.782+390T>C) c.712T>C (p.Cys238Arg) c.352T>C (p.Cys118Arg) c.796T>C (p.Cys266Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673791A>T | CA397836911 | TP53 | c.829T>A (p.Cys277Ser) c.433T>A (p.Cys145Ser) c.550T>A (p.Cys184Ser) c.808T>A (p.Cys270Ser) c.782+390T>A (n.782+390T>A) c.712T>A (p.Cys238Ser) c.352T>A (p.Cys118Ser) c.796T>A (p.Cys266Ser) | dbSNP |
| 17 | g.7673791_7673793delinsGA | CA645588405 | TP53 | c.827_829delinsTC (p.Ala276ValfsTer?) c.431_433delinsTC (p.Ala144ValfsTer?) c.548_550delinsTC (p.Ala183ValfsTer?) c.806_808delinsTC (p.Ala269ValfsTer?) c.782+388_782+390delinsTC (n.782+388_782+390delinsTC) c.710_712delinsTC (p.Ala237ValfsTer?) c.350_352delinsTC (p.Ala117ValfsTer?) c.794_796delinsTC (p.Ala265ValfsTer?) | COSMIC |
| 17 | g.7673792G>A | CA497716108 | TP53 | c.828C>T (p.Ala276=) c.432C>T (p.Ala144=) c.549C>T (p.Ala183=) c.807C>T (p.Ala269=) c.782+389C>T (n.782+389C>T) c.711C>T (p.Ala237=) c.351C>T (p.Ala117=) c.795C>T (p.Ala265=) | ClinVar dbSNP COSMIC |
| 17 | g.7673792G>C | CA497716111 | TP53 | c.828C>G (p.Ala276=) c.432C>G (p.Ala144=) c.549C>G (p.Ala183=) c.807C>G (p.Ala269=) c.782+389C>G (n.782+389C>G) c.711C>G (p.Ala237=) c.351C>G (p.Ala117=) c.795C>G (p.Ala265=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673792G>T | CA497716114 | TP53 | c.828C>A (p.Ala276=) c.432C>A (p.Ala144=) c.549C>A (p.Ala183=) c.807C>A (p.Ala269=) c.782+389C>A (n.782+389C>A) c.711C>A (p.Ala237=) c.351C>A (p.Ala117=) c.795C>A (p.Ala265=) | ClinVar dbSNP COSMIC |
| 17 | g.7673793del | CA497716117 | TP53 | c.828del (p.Cys277ValfsTer?) c.432del (p.Cys145ValfsTer?) c.549del (p.Cys184ValfsTer?) c.807del (p.Cys270ValfsTer?) c.782+389del (n.782+389del) c.711del (p.Cys238ValfsTer?) c.351del (p.Cys118ValfsTer?) c.795del (p.Cys266ValfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793G>A | CA397836916 | TP53 | c.827C>T (p.Ala276Val) c.431C>T (p.Ala144Val) c.548C>T (p.Ala183Val) c.806C>T (p.Ala269Val) c.782+388C>T (n.782+388C>T) c.710C>T (p.Ala237Val) c.350C>T (p.Ala117Val) c.794C>T (p.Ala265Val) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793G>C | CA000436 | TP53 | c.827C>G (p.Ala276Gly) c.431C>G (p.Ala144Gly) c.548C>G (p.Ala183Gly) c.806C>G (p.Ala269Gly) c.782+388C>G (n.782+388C>G) c.710C>G (p.Ala237Gly) c.350C>G (p.Ala117Gly) c.794C>G (p.Ala265Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793G= | CA2245949715 | TP53 | c.827C= (p.Ala276=) c.431C= (p.Ala144=) c.548C= (p.Ala183=) c.806C= (p.Ala269=) c.782+388C= (n.782+388C=) c.710C= (p.Ala237=) c.350C= (p.Ala117=) c.794C= (p.Ala265=) | |
| 17 | g.7673793G>T | CA10580916 | TP53 | c.827C>A (p.Ala276Asp) c.431C>A (p.Ala144Asp) c.548C>A (p.Ala183Asp) c.806C>A (p.Ala269Asp) c.782+388C>A (n.782+388C>A) c.710C>A (p.Ala237Asp) c.350C>A (p.Ala117Asp) c.794C>A (p.Ala265Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793_7673794delinsGC | CA2245949722 | TP53 | c.826_827delinsGC (p.Ala276=) c.430_431delinsGC (p.Ala144=) c.547_548delinsGC (p.Ala183=) c.805_806delinsGC (p.Ala269=) c.782+387_782+388delinsGC (n.782+387_782+388delinsGC) c.709_710delinsGC (p.Ala237=) c.349_350delinsGC (p.Ala117=) c.793_794delinsGC (p.Ala265=) | |
| 17 | g.7673797_7673806del | CA2695224228 | TP53 | c.818_827del (p.Arg273ProfsTer?) c.422_431del (p.Arg141ProfsTer?) c.539_548del (p.Arg180ProfsTer?) c.797_806del (p.Arg266ProfsTer?) c.782+379_782+388del (n.782+379_782+388del) c.701_710del (p.Arg234ProfsTer?) c.341_350del (p.Arg114ProfsTer?) c.785_794del (p.Arg262ProfsTer?) | |
| 17 | g.7673794del | CA2245949740 | TP53 | c.826del (p.Ala276ProfsTer?) c.430del (p.Ala144ProfsTer?) c.547del (p.Ala183ProfsTer?) c.805del (p.Ala269ProfsTer?) c.782+387del (n.782+387del) c.709del (p.Ala237ProfsTer?) c.349del (p.Ala117ProfsTer?) c.793del (p.Ala265ProfsTer?) | dbSNP |
| 17 | g.7673794C>A | CA397836926 | TP53 | c.826G>T (p.Ala276Ser) c.430G>T (p.Ala144Ser) c.547G>T (p.Ala183Ser) c.805G>T (p.Ala269Ser) c.782+387G>T (n.782+387G>T) c.709G>T (p.Ala237Ser) c.349G>T (p.Ala117Ser) c.793G>T (p.Ala265Ser) | dbSNP COSMIC |
| 17 | g.7673794C= | CA2245949734 | TP53 | c.826G= (p.Ala276=) c.430G= (p.Ala144=) c.547G= (p.Ala183=) c.805G= (p.Ala269=) c.782+387G= (n.782+387G=) c.709G= (p.Ala237=) c.349G= (p.Ala117=) c.793G= (p.Ala265=) | |
| 17 | g.7673794C>G | CA397836931 | TP53 | c.826G>C (p.Ala276Pro) c.430G>C (p.Ala144Pro) c.547G>C (p.Ala183Pro) c.805G>C (p.Ala269Pro) c.782+387G>C (n.782+387G>C) c.709G>C (p.Ala237Pro) c.349G>C (p.Ala117Pro) c.793G>C (p.Ala265Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673794C>T | CA397836928 | TP53 | c.826G>A (p.Ala276Thr) c.430G>A (p.Ala144Thr) c.547G>A (p.Ala183Thr) c.805G>A (p.Ala269Thr) c.782+387G>A (n.782+387G>A) c.709G>A (p.Ala237Thr) c.349G>A (p.Ala117Thr) c.793G>A (p.Ala265Thr) | ClinVar dbSNP COSMIC |
| 17 | g.7673794_7673796del | CA645588406 | TP53 | c.824_826del (p.Cys275_Ala276delinsSer) c.428_430del (p.Cys143_Ala144delinsSer) c.545_547del (p.Cys182_Ala183delinsSer) c.803_805del (p.Cys268_Ala269delinsSer) c.782+385_782+387del (n.782+385_782+387del) c.707_709del (p.Cys236_Ala237delinsSer) c.347_349del (p.Cys116_Ala117delinsSer) c.791_793del (p.Cys264_Ala265delinsSer) | COSMIC COSMIC COSMIC COSMIC |