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.209788437_209788441del | CA2574124886 | IRF6 | c.1390_1394del (p.Leu464SerfsTer10) c.*817_*821del (n.*817_*821del) c.1390_1394del (p.Leu464SerfsTer?) c.*900_*904del (n.*900_*904del) c.1105_1109del (p.Leu369SerfsTer?) | |
| 1 | g.209788437C>A | CA344572551 | IRF6 | c.1387G>T (p.Ala463Ser) c.*814G>T (n.*814G>T) c.*897G>T (n.*897G>T) c.1102G>T (p.Ala368Ser) | |
| 1 | g.209788437C>G | CA344572549 | IRF6 | c.1387G>C (p.Ala463Pro) c.*814G>C (n.*814G>C) c.*897G>C (n.*897G>C) c.1102G>C (p.Ala368Pro) | gnomAD v4 |
| 1 | g.209788437C>T | CA344572547 | IRF6 | c.1387G>A (p.Ala463Thr) c.*814G>A (n.*814G>A) c.*897G>A (n.*897G>A) c.1102G>A (p.Ala368Thr) | |
| 1 | g.209788438del | CA2740090304 | IRF6 | c.1386del (p.Ala463ProfsTer?) c.*813del (n.*813del) c.1386del (p.Ala463ProfsTer28) c.*896del (n.*896del) c.1101del (p.Ala368ProfsTer28) | ClinVar |
| 1 | g.209788438A>C | CA423024599 | IRF6 | c.1386T>G (p.Pro462=) c.*813T>G (n.*813T>G) c.*896T>G (n.*896T>G) c.1101T>G (p.Pro367=) | |
| 1 | g.209788438A>G | CA423024601 | IRF6 | c.1386T>C (p.Pro462=) c.*813T>C (n.*813T>C) c.*896T>C (n.*896T>C) c.1101T>C (p.Pro367=) | |
| 1 | g.209788438A>T | CA423024603 | IRF6 | c.1386T>A (p.Pro462=) c.*813T>A (n.*813T>A) c.*896T>A (n.*896T>A) c.1101T>A (p.Pro367=) | |
| 1 | g.209788439G>A | CA344572553 | IRF6 | c.1385C>T (p.Pro462Leu) c.*812C>T (n.*812C>T) c.*895C>T (n.*895C>T) c.1100C>T (p.Pro367Leu) | gnomAD v4 |
| 1 | g.209788439G>C | CA344572555 | IRF6 | c.1385C>G (p.Pro462Arg) c.*812C>G (n.*812C>G) c.*895C>G (n.*895C>G) c.1100C>G (p.Pro367Arg) | |
| 1 | g.209788439G>T | CA344572557 | IRF6 | c.1385C>A (p.Pro462His) c.*812C>A (n.*812C>A) c.*895C>A (n.*895C>A) c.1100C>A (p.Pro367His) | gnomAD v4 |
| 1 | g.209788443dup | CA2586968016 | IRF6 | c.1385dup (p.Ala463CysfsTer13) c.*812dup (n.*812dup) c.1385dup (p.Ala463CysfsTer?) c.*895dup (n.*895dup) c.1100dup (p.Ala368CysfsTer?) | |
| 1 | g.209788443del | CA645526280 | IRF6 | c.1385del (p.Pro462LeufsTer?) c.*812del (n.*812del) c.1385del (p.Pro462LeufsTer29) c.*895del (n.*895del) c.1100del (p.Pro367LeufsTer29) | gnomAD v4 COSMIC |
| 1 | g.209788440G>A | CA344572559 | IRF6 | c.1384C>T (p.Pro462Ser) c.*811C>T (n.*811C>T) c.*894C>T (n.*894C>T) c.1099C>T (p.Pro367Ser) | |
| 1 | g.209788440G>C | CA344572565 | IRF6 | c.1384C>G (p.Pro462Ala) c.*811C>G (n.*811C>G) c.*894C>G (n.*894C>G) c.1099C>G (p.Pro367Ala) | |
| 1 | g.209788440G>T | CA344572567 | IRF6 | c.1384C>A (p.Pro462Thr) c.*811C>A (n.*811C>A) c.*894C>A (n.*894C>A) c.1099C>A (p.Pro367Thr) | |
| 1 | g.209788441G>A | CA423024624 | IRF6 | c.1383C>T (p.Pro461=) c.*810C>T (n.*810C>T) c.*893C>T (n.*893C>T) c.1098C>T (p.Pro366=) | |
| 1 | g.209788441G>C | CA423024625 | IRF6 | c.1383C>G (p.Pro461=) c.*810C>G (n.*810C>G) c.*893C>G (n.*893C>G) c.1098C>G (p.Pro366=) | |
| 1 | g.209788441G>T | CA423024631 | IRF6 | c.1383C>A (p.Pro461=) c.*810C>A (n.*810C>A) c.*893C>A (n.*893C>A) c.1098C>A (p.Pro366=) | |
| 1 | g.209788442G>A | CA344572570 | IRF6 | c.1382C>T (p.Pro461Leu) c.*809C>T (n.*809C>T) c.*892C>T (n.*892C>T) c.1097C>T (p.Pro366Leu) | COSMIC |
| 1 | g.209788442G>C | CA344572573 | IRF6 | c.1382C>G (p.Pro461Arg) c.*809C>G (n.*809C>G) c.*892C>G (n.*892C>G) c.1097C>G (p.Pro366Arg) | |
| 1 | g.209788442G>T | CA344572572 | IRF6 | c.1382C>A (p.Pro461His) c.*809C>A (n.*809C>A) c.*892C>A (n.*892C>A) c.1097C>A (p.Pro366His) | |
| 1 | g.209788443G>A | CA344572575 | IRF6 | c.1381C>T (p.Pro461Ser) c.*808C>T (n.*808C>T) c.*891C>T (n.*891C>T) c.1096C>T (p.Pro366Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788443G>C | CA344572577 | IRF6 | c.1381C>G (p.Pro461Ala) c.*808C>G (n.*808C>G) c.*891C>G (n.*891C>G) c.1096C>G (p.Pro366Ala) | |
| 1 | g.209788443G= | CA2484364766 | IRF6 | c.1381C= (p.Pro461=) c.*808C= (n.*808C=) c.*891C= (n.*891C=) c.1096C= (p.Pro366=) | |
| 1 | g.209788443G>T | CA344572578 | IRF6 | c.1381C>A (p.Pro461Thr) c.*808C>A (n.*808C>A) c.*891C>A (n.*891C>A) c.1096C>A (p.Pro366Thr) | gnomAD v4 |
| 1 | g.209788444C>A | CA423024654 | IRF6 | c.1380G>T (p.Leu460=) c.*807G>T (n.*807G>T) c.*890G>T (n.*890G>T) c.1095G>T (p.Leu365=) | dbSNP |
| 1 | g.209788444C= | CA2484364767 | IRF6 | c.1380G= (p.Leu460=) c.*807G= (n.*807G=) c.*890G= (n.*890G=) c.1095G= (p.Leu365=) | |
| 1 | g.209788444C>G | CA423024657 | IRF6 | c.1380G>C (p.Leu460=) c.*807G>C (n.*807G>C) c.*890G>C (n.*890G>C) c.1095G>C (p.Leu365=) | |
| 1 | g.209788444C>T | CA423024661 | IRF6 | c.1380G>A (p.Leu460=) c.*807G>A (n.*807G>A) c.*890G>A (n.*890G>A) c.1095G>A (p.Leu365=) | |
| 1 | g.209788445A>C | CA344572580 | IRF6 | c.1379T>G (p.Leu460Arg) c.*806T>G (n.*806T>G) c.*889T>G (n.*889T>G) c.1094T>G (p.Leu365Arg) | |
| 1 | g.209788445A>G | CA344572581 | IRF6 | c.1379T>C (p.Leu460Pro) c.*806T>C (n.*806T>C) c.*889T>C (n.*889T>C) c.1094T>C (p.Leu365Pro) | |
| 1 | g.209788445A>T | CA344572583 | IRF6 | c.1379T>A (p.Leu460Gln) c.*806T>A (n.*806T>A) c.*889T>A (n.*889T>A) c.1094T>A (p.Leu365Gln) | |
| 1 | g.209788446G>A | CA423024676 | IRF6 | c.1378C>T (p.Leu460=) c.*805C>T (n.*805C>T) c.*888C>T (n.*888C>T) c.1093C>T (p.Leu365=) | |
| 1 | g.209788446G>C | CA344572585 | IRF6 | c.1378C>G (p.Leu460Val) c.*805C>G (n.*805C>G) c.*888C>G (n.*888C>G) c.1093C>G (p.Leu365Val) | |
| 1 | g.209788446G= | CA2484364768 | IRF6 | c.1378C= (p.Leu460=) c.*805C= (n.*805C=) c.*888C= (n.*888C=) c.1093C= (p.Leu365=) | |
| 1 | g.209788446G>T | CA344572587 | IRF6 | c.1378C>A (p.Leu460Met) c.*805C>A (n.*805C>A) c.*888C>A (n.*888C>A) c.1093C>A (p.Leu365Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209788447T>A | CA344572589 | IRF6 | c.1377A>T (p.Gln459His) c.*804A>T (n.*804A>T) c.*887A>T (n.*887A>T) c.1092A>T (p.Gln364His) | |
| 1 | g.209788447T>C | CA423024687 | IRF6 | c.1377A>G (p.Gln459=) c.*804A>G (n.*804A>G) c.*887A>G (n.*887A>G) c.1092A>G (p.Gln364=) | |
| 1 | g.209788447T>G | CA344572591 | IRF6 | c.1377A>C (p.Gln459His) c.*804A>C (n.*804A>C) c.*887A>C (n.*887A>C) c.1092A>C (p.Gln364His) | |
| 1 | g.209788448T>A | CA344572594 | IRF6 | c.1376A>T (p.Gln459Leu) c.*803A>T (n.*803A>T) c.*886A>T (n.*886A>T) c.1091A>T (p.Gln364Leu) | |
| 1 | g.209788448T>C | CA344572593 | IRF6 | c.1376A>G (p.Gln459Arg) c.*803A>G (n.*803A>G) c.*886A>G (n.*886A>G) c.1091A>G (p.Gln364Arg) | |
| 1 | g.209788448T>G | CA344572592 | IRF6 | c.1376A>C (p.Gln459Pro) c.*803A>C (n.*803A>C) c.*886A>C (n.*886A>C) c.1091A>C (p.Gln364Pro) | |
| 1 | g.209788449G>A | CA344572595 | IRF6 | c.1375C>T (p.Gln459Ter) c.*802C>T (n.*802C>T) c.*885C>T (n.*885C>T) c.1090C>T (p.Gln364Ter) | |
| 1 | g.209788449G>C | CA1377136 | IRF6 | c.1375C>G (p.Gln459Glu) c.*802C>G (n.*802C>G) c.*885C>G (n.*885C>G) c.1090C>G (p.Gln364Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209788449G= | CA1148274545 | IRF6 | c.1375C= (p.Gln459=) c.*802C= (n.*802C=) c.*885C= (n.*885C=) c.1090C= (p.Gln364=) | |
| 1 | g.209788449G>T | CA344572597 | IRF6 | c.1375C>A (p.Gln459Lys) c.*802C>A (n.*802C>A) c.*885C>A (n.*885C>A) c.1090C>A (p.Gln364Lys) | dbSNP |
| 1 | g.209788450C>A | CA344572600 | IRF6 | c.1374G>T (p.Met458Ile) c.*801G>T (n.*801G>T) c.*884G>T (n.*884G>T) c.1089G>T (p.Met363Ile) | |
| 1 | g.209788450C>G | CA344572602 | IRF6 | c.1374G>C (p.Met458Ile) c.*801G>C (n.*801G>C) c.*884G>C (n.*884G>C) c.1089G>C (p.Met363Ile) | |
| 1 | g.209788450C>T | CA344572605 | IRF6 | c.1374G>A (p.Met458Ile) c.*801G>A (n.*801G>A) c.*884G>A (n.*884G>A) c.1089G>A (p.Met363Ile) |