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 |
|---|---|---|---|---|---|
| 1 | g.209788528_209788536del | CA2522092021 | IRF6 | c.1289_1297del (p.Asp430_Ile432del) c.*716_*724del (n.*716_*724del) c.*799_*807del (n.*799_*807del) c.1004_1012del (p.Asp335_Ile337del) | |
| 1 | g.209788528_209788533del | CA2586968027 | IRF6 | c.1291_1296del (p.Asn431_Ile432del) c.*718_*723del (n.*718_*723del) c.*801_*806del (n.*801_*806del) c.1006_1011del (p.Asn336_Ile337del) | |
| 1 | g.209788532T>A | CA344572967 | IRF6 | c.1292A>T (p.Asn431Ile) c.*719A>T (n.*719A>T) c.*802A>T (n.*802A>T) c.1007A>T (p.Asn336Ile) | |
| 1 | g.209788532T>C | CA1377151 | IRF6 | c.1292A>G (p.Asn431Ser) c.*719A>G (n.*719A>G) c.*802A>G (n.*802A>G) c.1007A>G (p.Asn336Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788532T>G | CA344572970 | IRF6 | c.1292A>C (p.Asn431Thr) c.*719A>C (n.*719A>C) c.*802A>C (n.*802A>C) c.1007A>C (p.Asn336Thr) | ClinVar dbSNP |
| 1 | g.209788532T= | CA2484364800 | IRF6 | c.1292A= (p.Asn431=) c.*719A= (n.*719A=) c.*802A= (n.*802A=) c.1007A= (p.Asn336=) | |
| 1 | g.209788533T>A | CA344572971 | IRF6 | c.1291A>T (p.Asn431Tyr) c.*718A>T (n.*718A>T) c.*801A>T (n.*801A>T) c.1006A>T (p.Asn336Tyr) | |
| 1 | g.209788533T>C | CA344572972 | IRF6 | c.1291A>G (p.Asn431Asp) c.*718A>G (n.*718A>G) c.*801A>G (n.*801A>G) c.1006A>G (p.Asn336Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788533T>G | CA344572974 | IRF6 | c.1291A>C (p.Asn431His) c.*718A>C (n.*718A>C) c.*801A>C (n.*801A>C) c.1006A>C (p.Asn336His) | |
| 1 | g.209788533T= | CA2484364801 | IRF6 | c.1291A= (p.Asn431=) c.*718A= (n.*718A=) c.*801A= (n.*801A=) c.1006A= (p.Asn336=) | |
| 1 | g.209788534A>C | CA344572975 | IRF6 | c.1290T>G (p.Asp430Glu) c.*717T>G (n.*717T>G) c.*800T>G (n.*800T>G) c.1005T>G (p.Asp335Glu) | |
| 1 | g.209788534A>G | CA423025638 | IRF6 | c.1290T>C (p.Asp430=) c.*717T>C (n.*717T>C) c.*800T>C (n.*800T>C) c.1005T>C (p.Asp335=) | |
| 1 | g.209788534A>T | CA344572979 | IRF6 | c.1290T>A (p.Asp430Glu) c.*717T>A (n.*717T>A) c.*800T>A (n.*800T>A) c.1005T>A (p.Asp335Glu) | |
| 1 | g.209788535T>A | CA344572984 | IRF6 | c.1289A>T (p.Asp430Val) c.*716A>T (n.*716A>T) c.*799A>T (n.*799A>T) c.1004A>T (p.Asp335Val) | |
| 1 | g.209788535T>C | CA344572989 | IRF6 | c.1289A>G (p.Asp430Gly) c.*716A>G (n.*716A>G) c.*799A>G (n.*799A>G) c.1004A>G (p.Asp335Gly) | COSMIC |
| 1 | g.209788535T>G | CA344572987 | IRF6 | c.1289A>C (p.Asp430Ala) c.*716A>C (n.*716A>C) c.*799A>C (n.*799A>C) c.1004A>C (p.Asp335Ala) | |
| 1 | g.209788536C>A | CA344572993 | IRF6 | c.1288G>T (p.Asp430Tyr) c.*715G>T (n.*715G>T) c.*798G>T (n.*798G>T) c.1003G>T (p.Asp335Tyr) | |
| 1 | g.209788536C>G | CA344573006 | IRF6 | c.1288G>C (p.Asp430His) c.*715G>C (n.*715G>C) c.*798G>C (n.*798G>C) c.1003G>C (p.Asp335His) | |
| 1 | g.209788536C>T | CA344573009 | IRF6 | c.1288G>A (p.Asp430Asn) c.*715G>A (n.*715G>A) c.*798G>A (n.*798G>A) c.1003G>A (p.Asp335Asn) | |
| 1 | g.209788537C>A | CA344573012 | IRF6 | c.1287G>T (p.Lys429Asn) c.*714G>T (n.*714G>T) c.*797G>T (n.*797G>T) c.1002G>T (p.Lys334Asn) | |
| 1 | g.209788537C= | CA2484364802 | IRF6 | c.1287G= (p.Lys429=) c.*714G= (n.*714G=) c.*797G= (n.*797G=) c.1002G= (p.Lys334=) | |
| 1 | g.209788537C>G | CA1377152 | IRF6 | c.1287G>C (p.Lys429Asn) c.*714G>C (n.*714G>C) c.*797G>C (n.*797G>C) c.1002G>C (p.Lys334Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788537C>T | CA423025694 | IRF6 | c.1287G>A (p.Lys429=) c.*714G>A (n.*714G>A) c.*797G>A (n.*797G>A) c.1002G>A (p.Lys334=) | dbSNP gnomAD v4 |
| 1 | g.209788538T>A | CA344573017 | IRF6 | c.1286A>T (p.Lys429Met) c.*713A>T (n.*713A>T) c.*796A>T (n.*796A>T) c.1001A>T (p.Lys334Met) | |
| 1 | g.209788538T>C | CA344573019 | IRF6 | c.1286A>G (p.Lys429Arg) c.*713A>G (n.*713A>G) c.*796A>G (n.*796A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
| 1 | g.209788538T>G | CA344573022 | IRF6 | c.1286A>C (p.Lys429Thr) c.*713A>C (n.*713A>C) c.*796A>C (n.*796A>C) c.1001A>C (p.Lys334Thr) | |
| 1 | g.209788539T>A | CA344573025 | IRF6 | c.1285A>T (p.Lys429Ter) c.*712A>T (n.*712A>T) c.*795A>T (n.*795A>T) c.1000A>T (p.Lys334Ter) | |
| 1 | g.209788539T>C | CA344573030 | IRF6 | c.1285A>G (p.Lys429Glu) c.*712A>G (n.*712A>G) c.*795A>G (n.*795A>G) c.1000A>G (p.Lys334Glu) | |
| 1 | g.209788539T>G | CA344573032 | IRF6 | c.1285A>C (p.Lys429Gln) c.*712A>C (n.*712A>C) c.*795A>C (n.*795A>C) c.1000A>C (p.Lys334Gln) | |
| 1 | g.209788540G>A | CA423025715 | IRF6 | c.1284C>T (p.Ile428=) c.*711C>T (n.*711C>T) c.*794C>T (n.*794C>T) c.999C>T (p.Ile333=) | |
| 1 | g.209788540G>C | CA344573035 | IRF6 | c.1284C>G (p.Ile428Met) c.*711C>G (n.*711C>G) c.*794C>G (n.*794C>G) c.999C>G (p.Ile333Met) | gnomAD v4 |
| 1 | g.209788540G>T | CA423025724 | IRF6 | c.1284C>A (p.Ile428=) c.*711C>A (n.*711C>A) c.*794C>A (n.*794C>A) c.999C>A (p.Ile333=) | gnomAD v4 |
| 1 | g.209788541A>C | CA344573039 | IRF6 | c.1283T>G (p.Ile428Ser) c.*710T>G (n.*710T>G) c.*793T>G (n.*793T>G) c.998T>G (p.Ile333Ser) | |
| 1 | g.209788541A>G | CA344573044 | IRF6 | c.1283T>C (p.Ile428Thr) c.*710T>C (n.*710T>C) c.*793T>C (n.*793T>C) c.998T>C (p.Ile333Thr) | |
| 1 | g.209788541A>T | CA344573042 | IRF6 | c.1283T>A (p.Ile428Asn) c.*710T>A (n.*710T>A) c.*793T>A (n.*793T>A) c.998T>A (p.Ile333Asn) | |
| 1 | g.209788542T>A | CA344573048 | IRF6 | c.1282A>T (p.Ile428Phe) c.*709A>T (n.*709A>T) c.*792A>T (n.*792A>T) c.997A>T (p.Ile333Phe) | |
| 1 | g.209788542T>C | CA344573051 | IRF6 | c.1282A>G (p.Ile428Val) c.*709A>G (n.*709A>G) c.*792A>G (n.*792A>G) c.997A>G (p.Ile333Val) | |
| 1 | g.209788542T>G | CA344573053 | IRF6 | c.1282A>C (p.Ile428Leu) c.*709A>C (n.*709A>C) c.*792A>C (n.*792A>C) c.997A>C (p.Ile333Leu) | |
| 1 | g.209788543G>A | CA423025761 | IRF6 | c.1281C>T (p.Asp427=) c.*708C>T (n.*708C>T) c.*791C>T (n.*791C>T) c.996C>T (p.Asp332=) | |
| 1 | g.209788543G>C | CA344573055 | IRF6 | c.1281C>G (p.Asp427Glu) c.*708C>G (n.*708C>G) c.*791C>G (n.*791C>G) c.996C>G (p.Asp332Glu) | |
| 1 | g.209788543G>T | CA344573058 | IRF6 | c.1281C>A (p.Asp427Glu) c.*708C>A (n.*708C>A) c.*791C>A (n.*791C>A) c.996C>A (p.Asp332Glu) | |
| 1 | g.209788544T>A | CA344573068 | IRF6 | c.1280A>T (p.Asp427Val) c.*707A>T (n.*707A>T) c.*790A>T (n.*790A>T) c.995A>T (p.Asp332Val) | |
| 1 | g.209788544T>C | CA344573064 | IRF6 | c.1280A>G (p.Asp427Gly) c.*707A>G (n.*707A>G) c.*790A>G (n.*790A>G) c.995A>G (p.Asp332Gly) | gnomAD v4 |
| 1 | g.209788544T>G | CA344573061 | IRF6 | c.1280A>C (p.Asp427Ala) c.*707A>C (n.*707A>C) c.*790A>C (n.*790A>C) c.995A>C (p.Asp332Ala) | |
| 1 | g.209788544_209788547delinsATAACATCATCAA | CA2586968028 | IRF6 | c.1277_1280delinsTTGATGATGTTAT (p.Pro426_Asp427delinsLeuAspAspValIle) c.*704_*707delinsTTGATGATGTTAT (n.*704_*707delinsTTGATGATGTTAT) c.*787_*790delinsTTGATGATGTTAT (n.*787_*790delinsTTGATGATGTTAT) c.992_995delinsTTGATGATGTTAT (p.Pro331_Asp332delinsLeuAspAspValIle) | |
| 1 | g.209788545C>A | CA344573072 | IRF6 | c.1279G>T (p.Asp427Tyr) c.*706G>T (n.*706G>T) c.*789G>T (n.*789G>T) c.994G>T (p.Asp332Tyr) | ClinVar dbSNP |
| 1 | g.209788545C>G | CA344573090 | IRF6 | c.1279G>C (p.Asp427His) c.*706G>C (n.*706G>C) c.*789G>C (n.*789G>C) c.994G>C (p.Asp332His) | |
| 1 | g.209788545C>T | CA344573093 | IRF6 | c.1279G>A (p.Asp427Asn) c.*706G>A (n.*706G>A) c.*789G>A (n.*789G>A) c.994G>A (p.Asp332Asn) | |
| 1 | g.209788546T>A | CA423025778 | IRF6 | c.1278A>T (p.Pro426=) c.*705A>T (n.*705A>T) c.*788A>T (n.*788A>T) c.993A>T (p.Pro331=) | |
| 1 | g.209788546T>C | CA423025779 | IRF6 | c.1278A>G (p.Pro426=) c.*705A>G (n.*705A>G) c.*788A>G (n.*788A>G) c.993A>G (p.Pro331=) |