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.209788432C>A | CA423024546 | IRF6 | c.1392G>T (p.Leu464=) c.*819G>T (n.*819G>T) c.*902G>T (n.*902G>T) c.1107G>T (p.Leu369=) | |
| 1 | g.209788432C= | CA2484364763 | IRF6 | c.1392G= (p.Leu464=) c.*819G= (n.*819G=) c.*902G= (n.*902G=) c.1107G= (p.Leu369=) | |
| 1 | g.209788432C>G | CA423024547 | IRF6 | c.1392G>C (p.Leu464=) c.*819G>C (n.*819G>C) c.*902G>C (n.*902G>C) c.1107G>C (p.Leu369=) | |
| 1 | g.209788432C>T | CA423024545 | IRF6 | c.1392G>A (p.Leu464=) c.*819G>A (n.*819G>A) c.*902G>A (n.*902G>A) c.1107G>A (p.Leu369=) | dbSNP gnomAD v4 |
| 1 | g.209788433A>C | CA344572536 | IRF6 | c.1391T>G (p.Leu464Arg) c.*818T>G (n.*818T>G) c.*901T>G (n.*901T>G) c.1106T>G (p.Leu369Arg) | |
| 1 | g.209788433A>G | CA344572535 | IRF6 | c.1391T>C (p.Leu464Pro) c.*818T>C (n.*818T>C) c.*901T>C (n.*901T>C) c.1106T>C (p.Leu369Pro) | |
| 1 | g.209788433A>T | CA344572533 | IRF6 | c.1391T>A (p.Leu464Gln) c.*818T>A (n.*818T>A) c.*901T>A (n.*901T>A) c.1106T>A (p.Leu369Gln) | |
| 1 | g.209788434G>A | CA423024558 | IRF6 | c.1390C>T (p.Leu464=) c.*817C>T (n.*817C>T) c.*900C>T (n.*900C>T) c.1105C>T (p.Leu369=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788434G>C | CA344572539 | IRF6 | c.1390C>G (p.Leu464Val) c.*817C>G (n.*817C>G) c.*900C>G (n.*900C>G) c.1105C>G (p.Leu369Val) | gnomAD v4 |
| 1 | g.209788434G= | CA2484364764 | IRF6 | c.1390C= (p.Leu464=) c.*817C= (n.*817C=) c.*900C= (n.*900C=) c.1105C= (p.Leu369=) | |
| 1 | g.209788434G>T | CA344572540 | IRF6 | c.1390C>A (p.Leu464Met) c.*817C>A (n.*817C>A) c.*900C>A (n.*900C>A) c.1105C>A (p.Leu369Met) | |
| 1 | g.209788436del | CA2650334043 | IRF6 | c.1390del (p.Leu464CysfsTer?) c.*817del (n.*817del) c.1390del (p.Leu464CysfsTer27) c.*900del (n.*900del) c.1105del (p.Leu369CysfsTer27) | gnomAD v4 |
| 1 | g.209788435G>A | CA423024574 | IRF6 | c.1389C>T (p.Ala463=) c.*816C>T (n.*816C>T) c.*899C>T (n.*899C>T) c.1104C>T (p.Ala368=) | |
| 1 | g.209788435G>C | CA423024577 | IRF6 | c.1389C>G (p.Ala463=) c.*816C>G (n.*816C>G) c.*899C>G (n.*899C>G) c.1104C>G (p.Ala368=) | |
| 1 | g.209788435G>T | CA423024580 | IRF6 | c.1389C>A (p.Ala463=) c.*816C>A (n.*816C>A) c.*899C>A (n.*899C>A) c.1104C>A (p.Ala368=) | gnomAD v4 |
| 1 | g.209788435_209788436insAA | CA2520656444 | IRF6 | c.1388_1389insTT (p.Leu464SerfsTer?) c.*815_*816insTT (n.*815_*816insTT) c.1388_1389insTT (p.Leu464SerfsTer28) c.*898_*899insTT (n.*898_*899insTT) c.1103_1104insTT (p.Leu369SerfsTer28) | |
| 1 | g.209788436G>A | CA10609684 | IRF6 | c.1388C>T (p.Ala463Val) c.*815C>T (n.*815C>T) c.*898C>T (n.*898C>T) c.1103C>T (p.Ala368Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788436G>C | CA344572543 | IRF6 | c.1388C>G (p.Ala463Gly) c.*815C>G (n.*815C>G) c.*898C>G (n.*898C>G) c.1103C>G (p.Ala368Gly) | |
| 1 | g.209788436G= | CA2484364765 | IRF6 | c.1388C= (p.Ala463=) c.*815C= (n.*815C=) c.*898C= (n.*898C=) c.1103C= (p.Ala368=) | |
| 1 | g.209788436G>T | CA344572545 | IRF6 | c.1388C>A (p.Ala463Asp) c.*815C>A (n.*815C>A) c.*898C>A (n.*898C>A) c.1103C>A (p.Ala368Asp) | gnomAD v4 |
| 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=) |