WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399206del | CA2616032680 | ANKK1 | c.1237del (p.Leu413CysfsTer?) c.1270del (p.Leu424CysfsTer?) c.1240del (p.Leu414CysfsTer?) c.1048del (p.Leu350CysfsTer?) c.1267del (p.Leu423CysfsTer?) | gnomAD v4 |
| 11 | g.113399206C>A | CA382644567 | ANKK1 | c.1237C>A (p.Leu413Met) c.1270C>A (p.Leu424Met) c.1240C>A (p.Leu414Met) c.1048C>A (p.Leu350Met) c.1267C>A (p.Leu423Met) | gnomAD v4 |
| 11 | g.113399206C>G | CA382644568 | ANKK1 | c.1237C>G (p.Leu413Val) c.1270C>G (p.Leu424Val) c.1240C>G (p.Leu414Val) c.1048C>G (p.Leu350Val) c.1267C>G (p.Leu423Val) | |
| 11 | g.113399206C>T | CA477042778 | ANKK1 | c.1237C>T (p.Leu413=) c.1270C>T (p.Leu424=) c.1240C>T (p.Leu414=) c.1048C>T (p.Leu350=) c.1267C>T (p.Leu423=) | |
| 11 | g.113399207T>A | CA382644569 | ANKK1 | c.1238T>A (p.Leu413Gln) c.1271T>A (p.Leu424Gln) c.1241T>A (p.Leu414Gln) c.1049T>A (p.Leu350Gln) c.1268T>A (p.Leu423Gln) | |
| 11 | g.113399207T>C | CA382644570 | ANKK1 | c.1238T>C (p.Leu413Pro) c.1271T>C (p.Leu424Pro) c.1241T>C (p.Leu414Pro) c.1049T>C (p.Leu350Pro) c.1268T>C (p.Leu423Pro) | |
| 11 | g.113399207T>G | CA382644571 | ANKK1 | c.1238T>G (p.Leu413Arg) c.1271T>G (p.Leu424Arg) c.1241T>G (p.Leu414Arg) c.1049T>G (p.Leu350Arg) c.1268T>G (p.Leu423Arg) | |
| 11 | g.113399208G>A | CA477042781 | ANKK1 | c.1239G>A (p.Leu413=) c.1272G>A (p.Leu424=) c.1242G>A (p.Leu414=) c.1050G>A (p.Leu350=) c.1269G>A (p.Leu423=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399208G>C | CA477042780 | ANKK1 | c.1239G>C (p.Leu413=) c.1272G>C (p.Leu424=) c.1242G>C (p.Leu414=) c.1050G>C (p.Leu350=) c.1269G>C (p.Leu423=) | |
| 11 | g.113399208G= | CA2001151840 | ANKK1 | c.1239G= (p.Leu413=) c.1272G= (p.Leu424=) c.1242G= (p.Leu414=) c.1050G= (p.Leu350=) c.1269G= (p.Leu423=) | |
| 11 | g.113399208G>T | CA477042779 | ANKK1 | c.1239G>T (p.Leu413=) c.1272G>T (p.Leu424=) c.1242G>T (p.Leu414=) c.1050G>T (p.Leu350=) c.1269G>T (p.Leu423=) | |
| 11 | g.113399209C>A | CA382644573 | ANKK1 | c.1240C>A (p.Leu414Ile) c.1273C>A (p.Leu425Ile) c.1243C>A (p.Leu415Ile) c.1051C>A (p.Leu351Ile) c.1270C>A (p.Leu424Ile) | gnomAD v4 |
| 11 | g.113399209C>G | CA382644574 | ANKK1 | c.1240C>G (p.Leu414Val) c.1273C>G (p.Leu425Val) c.1243C>G (p.Leu415Val) c.1051C>G (p.Leu351Val) c.1270C>G (p.Leu424Val) | |
| 11 | g.113399209C>T | CA382644575 | ANKK1 | c.1240C>T (p.Leu414Phe) c.1273C>T (p.Leu425Phe) c.1243C>T (p.Leu415Phe) c.1051C>T (p.Leu351Phe) c.1270C>T (p.Leu424Phe) | ClinVar gnomAD v4 COSMIC |
| 11 | g.113399209_113399210delinsCT | CA2001151843 | ANKK1 | c.1240_1241delinsCT (p.Leu414=) c.1273_1274delinsCT (p.Leu425=) c.1243_1244delinsCT (p.Leu415=) c.1051_1052delinsCT (p.Leu351=) c.1270_1271delinsCT (p.Leu424=) | |
| 11 | g.113399210T>A | CA382644576 | ANKK1 | c.1241T>A (p.Leu414His) c.1274T>A (p.Leu425His) c.1244T>A (p.Leu415His) c.1052T>A (p.Leu351His) c.1271T>A (p.Leu424His) | |
| 11 | g.113399210T>C | CA382644577 | ANKK1 | c.1241T>C (p.Leu414Pro) c.1274T>C (p.Leu425Pro) c.1244T>C (p.Leu415Pro) c.1052T>C (p.Leu351Pro) c.1271T>C (p.Leu424Pro) | |
| 11 | g.113399210T>G | CA382644578 | ANKK1 | c.1241T>G (p.Leu414Arg) c.1274T>G (p.Leu425Arg) c.1244T>G (p.Leu415Arg) c.1052T>G (p.Leu351Arg) c.1271T>G (p.Leu424Arg) | |
| 11 | g.113399213del | CA602135039 | ANKK1 | c.1244del (p.Leu415TrpfsTer?) c.1277del (p.Leu426TrpfsTer?) c.1247del (p.Leu416TrpfsTer?) c.1055del (p.Leu352TrpfsTer?) c.1274del (p.Leu425TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399211T>A | CA477042787 | ANKK1 | c.1242T>A (p.Leu414=) c.1275T>A (p.Leu425=) c.1245T>A (p.Leu415=) c.1053T>A (p.Leu351=) c.1272T>A (p.Leu424=) | gnomAD v4 |
| 11 | g.113399211T>C | CA477042788 | ANKK1 | c.1242T>C (p.Leu414=) c.1275T>C (p.Leu425=) c.1245T>C (p.Leu415=) c.1053T>C (p.Leu351=) c.1272T>C (p.Leu424=) | |
| 11 | g.113399211T>G | CA477042789 | ANKK1 | c.1242T>G (p.Leu414=) c.1275T>G (p.Leu425=) c.1245T>G (p.Leu415=) c.1053T>G (p.Leu351=) c.1272T>G (p.Leu424=) | |
| 11 | g.113399212T>A | CA382644579 | ANKK1 | c.1243T>A (p.Leu415Met) c.1276T>A (p.Leu426Met) c.1246T>A (p.Leu416Met) c.1054T>A (p.Leu352Met) c.1273T>A (p.Leu425Met) | |
| 11 | g.113399212T>C | CA477042790 | ANKK1 | c.1243T>C (p.Leu415=) c.1276T>C (p.Leu426=) c.1246T>C (p.Leu416=) c.1054T>C (p.Leu352=) c.1273T>C (p.Leu425=) | |
| 11 | g.113399212T>G | CA382644580 | ANKK1 | c.1243T>G (p.Leu415Val) c.1276T>G (p.Leu426Val) c.1246T>G (p.Leu416Val) c.1054T>G (p.Leu352Val) c.1273T>G (p.Leu425Val) | |
| 11 | g.113399213T>A | CA382644581 | ANKK1 | c.1244T>A (p.Leu415Ter) c.1277T>A (p.Leu426Ter) c.1247T>A (p.Leu416Ter) c.1055T>A (p.Leu352Ter) c.1274T>A (p.Leu425Ter) | |
| 11 | g.113399213T>C | CA382644582 | ANKK1 | c.1244T>C (p.Leu415Ser) c.1277T>C (p.Leu426Ser) c.1247T>C (p.Leu416Ser) c.1055T>C (p.Leu352Ser) c.1274T>C (p.Leu425Ser) | |
| 11 | g.113399213T>G | CA382644583 | ANKK1 | c.1244T>G (p.Leu415Trp) c.1277T>G (p.Leu426Trp) c.1247T>G (p.Leu416Trp) c.1055T>G (p.Leu352Trp) c.1274T>G (p.Leu425Trp) | |
| 11 | g.113399214G>A | CA477042793 | ANKK1 | c.1245G>A (p.Leu415=) c.1278G>A (p.Leu426=) c.1248G>A (p.Leu416=) c.1056G>A (p.Leu352=) c.1275G>A (p.Leu425=) | |
| 11 | g.113399214G>C | CA382644584 | ANKK1 | c.1245G>C (p.Leu415Phe) c.1278G>C (p.Leu426Phe) c.1248G>C (p.Leu416Phe) c.1056G>C (p.Leu352Phe) c.1275G>C (p.Leu425Phe) | |
| 11 | g.113399214G>T | CA382644585 | ANKK1 | c.1245G>T (p.Leu415Phe) c.1278G>T (p.Leu426Phe) c.1248G>T (p.Leu416Phe) c.1056G>T (p.Leu352Phe) c.1275G>T (p.Leu425Phe) | |
| 11 | g.113399215G>A | CA382644586 | ANKK1 | c.1246G>A (p.Ala416Thr) c.1279G>A (p.Ala427Thr) c.1249G>A (p.Ala417Thr) c.1057G>A (p.Ala353Thr) c.1276G>A (p.Ala426Thr) | gnomAD v4 |
| 11 | g.113399215G>C | CA382644587 | ANKK1 | c.1246G>C (p.Ala416Pro) c.1279G>C (p.Ala427Pro) c.1249G>C (p.Ala417Pro) c.1057G>C (p.Ala353Pro) c.1276G>C (p.Ala426Pro) | |
| 11 | g.113399215G>T | CA382644588 | ANKK1 | c.1246G>T (p.Ala416Ser) c.1279G>T (p.Ala427Ser) c.1249G>T (p.Ala417Ser) c.1057G>T (p.Ala353Ser) c.1276G>T (p.Ala426Ser) | |
| 11 | g.113399216C>A | CA382644589 | ANKK1 | c.1247C>A (p.Ala416Glu) c.1280C>A (p.Ala427Glu) c.1250C>A (p.Ala417Glu) c.1058C>A (p.Ala353Glu) c.1277C>A (p.Ala426Glu) | gnomAD v4 |
| 11 | g.113399216C>G | CA382644590 | ANKK1 | c.1247C>G (p.Ala416Gly) c.1280C>G (p.Ala427Gly) c.1250C>G (p.Ala417Gly) c.1058C>G (p.Ala353Gly) c.1277C>G (p.Ala426Gly) | |
| 11 | g.113399216C>T | CA382644591 | ANKK1 | c.1247C>T (p.Ala416Val) c.1280C>T (p.Ala427Val) c.1250C>T (p.Ala417Val) c.1058C>T (p.Ala353Val) c.1277C>T (p.Ala426Val) | gnomAD v4 |
| 11 | g.113399217A>C | CA477042798 | ANKK1 | c.1248A>C (p.Ala416=) c.1281A>C (p.Ala427=) c.1251A>C (p.Ala417=) c.1059A>C (p.Ala353=) c.1278A>C (p.Ala426=) | |
| 11 | g.113399217A>G | CA477042799 | ANKK1 | c.1248A>G (p.Ala416=) c.1281A>G (p.Ala427=) c.1251A>G (p.Ala417=) c.1059A>G (p.Ala353=) c.1278A>G (p.Ala426=) | gnomAD v4 |
| 11 | g.113399217A>T | CA477042800 | ANKK1 | c.1248A>T (p.Ala416=) c.1281A>T (p.Ala427=) c.1251A>T (p.Ala417=) c.1059A>T (p.Ala353=) c.1278A>T (p.Ala426=) | |
| 11 | g.113399218C>A | CA382644593 | ANKK1 | c.1249C>A (p.His417Asn) c.1282C>A (p.His428Asn) c.1252C>A (p.His418Asn) c.1060C>A (p.His354Asn) c.1279C>A (p.His427Asn) | gnomAD v4 |
| 11 | g.113399218C= | CA2001151850 | ANKK1 | c.1249C= (p.His417=) c.1282C= (p.His428=) c.1252C= (p.His418=) c.1060C= (p.His354=) c.1279C= (p.His427=) | |
| 11 | g.113399218C>G | CA382644595 | ANKK1 | c.1249C>G (p.His417Asp) c.1282C>G (p.His428Asp) c.1252C>G (p.His418Asp) c.1060C>G (p.His354Asp) c.1279C>G (p.His427Asp) | |
| 11 | g.113399218C>T | CA382644596 | ANKK1 | c.1249C>T (p.His417Tyr) c.1282C>T (p.His428Tyr) c.1252C>T (p.His418Tyr) c.1060C>T (p.His354Tyr) c.1279C>T (p.His427Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399219A= | CA2001151853 | ANKK1 | c.1250A= (p.His417=) c.1283A= (p.His428=) c.1253A= (p.His418=) c.1061A= (p.His354=) c.1280A= (p.His427=) | |
| 11 | g.113399219A>C | CA382644597 | ANKK1 | c.1250A>C (p.His417Pro) c.1283A>C (p.His428Pro) c.1253A>C (p.His418Pro) c.1061A>C (p.His354Pro) c.1280A>C (p.His427Pro) | |
| 11 | g.113399219A>G | CA382644598 | ANKK1 | c.1250A>G (p.His417Arg) c.1283A>G (p.His428Arg) c.1253A>G (p.His418Arg) c.1061A>G (p.His354Arg) c.1280A>G (p.His427Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399219A>T | CA382644599 | ANKK1 | c.1250A>T (p.His417Leu) c.1283A>T (p.His428Leu) c.1253A>T (p.His418Leu) c.1061A>T (p.His354Leu) c.1280A>T (p.His427Leu) | |
| 11 | g.113399220T>A | CA6280906 | ANKK1 | c.1251T>A (p.His417Gln) c.1284T>A (p.His428Gln) c.1254T>A (p.His418Gln) c.1062T>A (p.His354Gln) c.1281T>A (p.His427Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399220T>C | CA477042805 | ANKK1 | c.1251T>C (p.His417=) c.1284T>C (p.His428=) c.1254T>C (p.His418=) c.1062T>C (p.His354=) c.1281T>C (p.His427=) | dbSNP |