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.209788630del | CA658655632 | IRF6 | c.1195del (p.Ala399LeufsTer3) c.*622del (n.*622del) c.*705del (n.*705del) c.910del (p.Ala304LeufsTer3) | ClinVar dbSNP |
| 1 | g.209788630C>A | CA423026809 | IRF6 | c.1194G>T (p.Val398=) c.*621G>T (n.*621G>T) c.*704G>T (n.*704G>T) c.909G>T (p.Val303=) | |
| 1 | g.209788630C>G | CA423026821 | IRF6 | c.1194G>C (p.Val398=) c.*621G>C (n.*621G>C) c.*704G>C (n.*704G>C) c.909G>C (p.Val303=) | |
| 1 | g.209788630C>T | CA423026825 | IRF6 | c.1194G>A (p.Val398=) c.*621G>A (n.*621G>A) c.*704G>A (n.*704G>A) c.909G>A (p.Val303=) | |
| 1 | g.209788631A>C | CA344573585 | IRF6 | c.1193T>G (p.Val398Gly) c.*620T>G (n.*620T>G) c.*703T>G (n.*703T>G) c.908T>G (p.Val303Gly) | |
| 1 | g.209788631A>G | CA344573586 | IRF6 | c.1193T>C (p.Val398Ala) c.*620T>C (n.*620T>C) c.*703T>C (n.*703T>C) c.908T>C (p.Val303Ala) | |
| 1 | g.209788631A>T | CA344573587 | IRF6 | c.1193T>A (p.Val398Glu) c.*620T>A (n.*620T>A) c.*703T>A (n.*703T>A) c.908T>A (p.Val303Glu) | |
| 1 | g.209788632C>A | CA344573588 | IRF6 | c.1192G>T (p.Val398Leu) c.*619G>T (n.*619G>T) c.*702G>T (n.*702G>T) c.907G>T (p.Val303Leu) | |
| 1 | g.209788632C>G | CA344573589 | IRF6 | c.1192G>C (p.Val398Leu) c.*619G>C (n.*619G>C) c.*702G>C (n.*702G>C) c.907G>C (p.Val303Leu) | |
| 1 | g.209788632C>T | CA344573590 | IRF6 | c.1192G>A (p.Val398Met) c.*619G>A (n.*619G>A) c.*702G>A (n.*702G>A) c.907G>A (p.Val303Met) | |
| 1 | g.209788632_209788633insCTACTGGAAT | CA645526281 | IRF6 | c.1191_1192insATTCCAGTAG (p.Val398IlefsTer15) c.*618_*619insATTCCAGTAG (n.*618_*619insATTCCAGTAG) c.*701_*702insATTCCAGTAG (n.*701_*702insATTCCAGTAG) c.906_907insATTCCAGTAG (p.Val303IlefsTer15) | COSMIC |
| 1 | g.209788633T>A | CA423026867 | IRF6 | c.1191A>T (p.Val397=) c.*618A>T (n.*618A>T) c.*701A>T (n.*701A>T) c.906A>T (p.Val302=) | |
| 1 | g.209788633T>C | CA423026868 | IRF6 | c.1191A>G (p.Val397=) c.*618A>G (n.*618A>G) c.*701A>G (n.*701A>G) c.906A>G (p.Val302=) | |
| 1 | g.209788633T>G | CA423026869 | IRF6 | c.1191A>C (p.Val397=) c.*618A>C (n.*618A>C) c.*701A>C (n.*701A>C) c.906A>C (p.Val302=) | |
| 1 | g.209788634A>C | CA344573594 | IRF6 | c.1190T>G (p.Val397Gly) c.*617T>G (n.*617T>G) c.*700T>G (n.*700T>G) c.905T>G (p.Val302Gly) | |
| 1 | g.209788634A>G | CA344573592 | IRF6 | c.1190T>C (p.Val397Ala) c.*617T>C (n.*617T>C) c.*700T>C (n.*700T>C) c.905T>C (p.Val302Ala) | ClinVar |
| 1 | g.209788634A>T | CA344573591 | IRF6 | c.1190T>A (p.Val397Glu) c.*617T>A (n.*617T>A) c.*700T>A (n.*700T>A) c.905T>A (p.Val302Glu) | |
| 1 | g.209788635C>A | CA344573603 | IRF6 | c.1189G>T (p.Val397Leu) c.*616G>T (n.*616G>T) c.*699G>T (n.*699G>T) c.904G>T (p.Val302Leu) | |
| 1 | g.209788635C>G | CA344573607 | IRF6 | c.1189G>C (p.Val397Leu) c.*616G>C (n.*616G>C) c.*699G>C (n.*699G>C) c.904G>C (p.Val302Leu) | |
| 1 | g.209788635C>T | CA344573606 | IRF6 | c.1189G>A (p.Val397Ile) c.*616G>A (n.*616G>A) c.*699G>A (n.*699G>A) c.904G>A (p.Val302Ile) | |
| 1 | g.209788636T>A | CA423026879 | IRF6 | c.1188A>T (p.Pro396=) c.*615A>T (n.*615A>T) c.*698A>T (n.*698A>T) c.903A>T (p.Pro301=) | |
| 1 | g.209788636T>C | CA1377175 | IRF6 | c.1188A>G (p.Pro396=) c.*615A>G (n.*615A>G) c.*698A>G (n.*698A>G) c.903A>G (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788636T>G | CA423026882 | IRF6 | c.1188A>C (p.Pro396=) c.*615A>C (n.*615A>C) c.*698A>C (n.*698A>C) c.903A>C (p.Pro301=) | dbSNP gnomAD v4 |
| 1 | g.209788636T= | CA1141812756 | IRF6 | c.1188A= (p.Pro396=) c.*615A= (n.*615A=) c.*698A= (n.*698A=) c.903A= (p.Pro301=) | |
| 1 | g.209788637G>A | CA344573609 | IRF6 | c.1187C>T (p.Pro396Leu) c.*614C>T (n.*614C>T) c.*697C>T (n.*697C>T) c.902C>T (p.Pro301Leu) | |
| 1 | g.209788637G>C | CA344573612 | IRF6 | c.1187C>G (p.Pro396Arg) c.*614C>G (n.*614C>G) c.*697C>G (n.*697C>G) c.902C>G (p.Pro301Arg) | |
| 1 | g.209788637G>T | CA344573616 | IRF6 | c.1187C>A (p.Pro396Gln) c.*614C>A (n.*614C>A) c.*697C>A (n.*697C>A) c.902C>A (p.Pro301Gln) | |
| 1 | g.209788638G>A | CA252765 | IRF6 | c.1186C>T (p.Pro396Ser) c.*613C>T (n.*613C>T) c.*696C>T (n.*696C>T) c.901C>T (p.Pro301Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209788638G>C | CA344573626 | IRF6 | c.1186C>G (p.Pro396Ala) c.*613C>G (n.*613C>G) c.*696C>G (n.*696C>G) c.901C>G (p.Pro301Ala) | |
| 1 | g.209788638G= | CA1141581363 | IRF6 | c.1186C= (p.Pro396=) c.*613C= (n.*613C=) c.*696C= (n.*696C=) c.901C= (p.Pro301=) | |
| 1 | g.209788638G>T | CA344573627 | IRF6 | c.1186C>A (p.Pro396Thr) c.*613C>A (n.*613C>A) c.*696C>A (n.*696C>A) c.901C>A (p.Pro301Thr) | |
| 1 | g.209788639A>C | CA344573628 | IRF6 | c.1185T>G (p.Ile395Met) c.*612T>G (n.*612T>G) c.*695T>G (n.*695T>G) c.900T>G (p.Ile300Met) | |
| 1 | g.209788639A>G | CA423026893 | IRF6 | c.1185T>C (p.Ile395=) c.*612T>C (n.*612T>C) c.*695T>C (n.*695T>C) c.900T>C (p.Ile300=) | |
| 1 | g.209788639A>T | CA423026898 | IRF6 | c.1185T>A (p.Ile395=) c.*612T>A (n.*612T>A) c.*695T>A (n.*695T>A) c.900T>A (p.Ile300=) | |
| 1 | g.209788640A>C | CA344573631 | IRF6 | c.1184T>G (p.Ile395Ser) c.*611T>G (n.*611T>G) c.*694T>G (n.*694T>G) c.899T>G (p.Ile300Ser) | |
| 1 | g.209788640A>G | CA344573633 | IRF6 | c.1184T>C (p.Ile395Thr) c.*611T>C (n.*611T>C) c.*694T>C (n.*694T>C) c.899T>C (p.Ile300Thr) | |
| 1 | g.209788640A>T | CA344573634 | IRF6 | c.1184T>A (p.Ile395Asn) c.*611T>A (n.*611T>A) c.*694T>A (n.*694T>A) c.899T>A (p.Ile300Asn) | |
| 1 | g.209788641T>A | CA344573643 | IRF6 | c.1183A>T (p.Ile395Phe) c.*610A>T (n.*610A>T) c.*693A>T (n.*693A>T) c.898A>T (p.Ile300Phe) | |
| 1 | g.209788641T>C | CA344573641 | IRF6 | c.1183A>G (p.Ile395Val) c.*610A>G (n.*610A>G) c.*693A>G (n.*693A>G) c.898A>G (p.Ile300Val) | |
| 1 | g.209788641T>G | CA344573637 | IRF6 | c.1183A>C (p.Ile395Leu) c.*610A>C (n.*610A>C) c.*693A>C (n.*693A>C) c.898A>C (p.Ile300Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209788641T= | CA2484364835 | IRF6 | c.1183A= (p.Ile395=) c.*610A= (n.*610A=) c.*693A= (n.*693A=) c.898A= (p.Ile300=) | |
| 1 | g.209788642G>A | CA423026941 | IRF6 | c.1182C>T (p.Val394=) c.*609C>T (n.*609C>T) c.*692C>T (n.*692C>T) c.897C>T (p.Val299=) | COSMIC |
| 1 | g.209788642G>C | CA423026950 | IRF6 | c.1182C>G (p.Val394=) c.*609C>G (n.*609C>G) c.*692C>G (n.*692C>G) c.897C>G (p.Val299=) | |
| 1 | g.209788642G>T | CA423026955 | IRF6 | c.1182C>A (p.Val394=) c.*609C>A (n.*609C>A) c.*692C>A (n.*692C>A) c.897C>A (p.Val299=) | gnomAD v4 |
| 1 | g.209788643A>C | CA344573648 | IRF6 | c.1181T>G (p.Val394Gly) c.*608T>G (n.*608T>G) c.*691T>G (n.*691T>G) c.896T>G (p.Val299Gly) | |
| 1 | g.209788643A>G | CA344573651 | IRF6 | c.1181T>C (p.Val394Ala) c.*608T>C (n.*608T>C) c.*691T>C (n.*691T>C) c.896T>C (p.Val299Ala) | |
| 1 | g.209788643A>T | CA344573659 | IRF6 | c.1181T>A (p.Val394Asp) c.*608T>A (n.*608T>A) c.*691T>A (n.*691T>A) c.896T>A (p.Val299Asp) | |
| 1 | g.209788644C>A | CA344573662 | IRF6 | c.1180G>T (p.Val394Phe) c.*607G>T (n.*607G>T) c.*690G>T (n.*690G>T) c.895G>T (p.Val299Phe) | dbSNP |
| 1 | g.209788644C= | CA2484364836 | IRF6 | c.1180G= (p.Val394=) c.*607G= (n.*607G=) c.*690G= (n.*690G=) c.895G= (p.Val299=) | |
| 1 | g.209788644C>G | CA344573663 | IRF6 | c.1180G>C (p.Val394Leu) c.*607G>C (n.*607G>C) c.*690G>C (n.*690G>C) c.895G>C (p.Val299Leu) |