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.67490805_67490825dup | CA344192 | AIP | c.1112_1132dup c.616_636dup (p.His212_Ala213insPheLysArgGlyLysAlaHis) n.1647_1667dup c.469-192_469-172dup (n.469-192_469-172dup) c.436_456dup (p.His152_Ala153insPheLysArgGlyLysAlaHis) c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis) c.797_817dup (p.Pro272_Arg273insLeuGlnAlaGlyGlnGlyPro) c.628_648dup (p.His216_Ala217insPheLysArgGlyLysAlaHis) c.794_814dup (p.Pro271_Arg272insLeuGlnAlaGlyGlnGlyPro) c.625_645dup (p.His215_Ala216insPheLysArgGlyLysAlaHis) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490807C>A | CA381554448 | AIP | c.1114C>A c.618C>A (p.Phe206Leu) n.1649C>A c.469-190C>A (n.469-190C>A) c.438C>A (p.Phe146Leu) c.807C>A (p.Phe269Leu) c.799C>A (p.Gln267Lys) c.630C>A (p.Phe210Leu) c.796C>A (p.Gln266Lys) c.627C>A (p.Phe209Leu) | ClinVar |
| 11 | g.67490807C= | CA1980172644 | AIP | c.1114C= c.618C= (p.Phe206=) n.1649C= c.469-190C= (n.469-190C=) c.438C= (p.Phe146=) c.807C= (p.Phe269=) c.799C= (p.Gln267=) c.630C= (p.Phe210=) c.796C= (p.Gln266=) c.627C= (p.Phe209=) | |
| 11 | g.67490807C>G | CA381554445 | AIP | c.1114C>G c.618C>G (p.Phe206Leu) n.1649C>G c.469-190C>G (n.469-190C>G) c.438C>G (p.Phe146Leu) c.807C>G (p.Phe269Leu) c.799C>G (p.Gln267Glu) c.630C>G (p.Phe210Leu) c.796C>G (p.Gln266Glu) c.627C>G (p.Phe209Leu) | ClinVar COSMIC |
| 11 | g.67490807C>T | CA344196 | AIP | c.1114C>T c.618C>T (p.Phe206=) n.1649C>T c.469-190C>T (n.469-190C>T) c.438C>T (p.Phe146=) c.807C>T (p.Phe269=) c.799C>T (p.Gln267Ter) c.630C>T (p.Phe210=) c.796C>T (p.Gln266Ter) c.627C>T (p.Phe209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490808A>C | CA381554454 | AIP | c.1115A>C c.619A>C (p.Lys207Gln) n.1650A>C c.469-189A>C (n.469-189A>C) c.439A>C (p.Lys147Gln) c.808A>C (p.Lys270Gln) c.800A>C (p.Gln267Pro) c.631A>C (p.Lys211Gln) c.797A>C (p.Gln266Pro) c.628A>C (p.Lys210Gln) | |
| 11 | g.67490808A>G | CA381554457 | AIP | c.1115A>G c.619A>G (p.Lys207Glu) n.1650A>G c.469-189A>G (n.469-189A>G) c.439A>G (p.Lys147Glu) c.808A>G (p.Lys270Glu) c.800A>G (p.Gln267Arg) c.631A>G (p.Lys211Glu) c.797A>G (p.Gln266Arg) c.628A>G (p.Lys210Glu) | gnomAD v4 |
| 11 | g.67490808A>T | CA381554455 | AIP | c.1115A>T c.619A>T (p.Lys207Ter) n.1650A>T c.469-189A>T (n.469-189A>T) c.439A>T (p.Lys147Ter) c.808A>T (p.Lys270Ter) c.800A>T (p.Gln267Leu) c.631A>T (p.Lys211Ter) c.797A>T (p.Gln266Leu) c.628A>T (p.Lys210Ter) | |
| 11 | g.67490809A>C | CA381554460 | AIP | c.1116A>C c.620A>C (p.Lys207Thr) n.1651A>C c.469-188A>C (n.469-188A>C) c.440A>C (p.Lys147Thr) c.809A>C (p.Lys270Thr) c.801A>C (p.Gln267His) c.632A>C (p.Lys211Thr) c.798A>C (p.Gln266His) c.629A>C (p.Lys210Thr) | ClinVar |
| 11 | g.67490809A>G | CA381554463 | AIP | c.1116A>G c.620A>G (p.Lys207Arg) n.1651A>G c.469-188A>G (n.469-188A>G) c.440A>G (p.Lys147Arg) c.809A>G (p.Lys270Arg) c.801A>G (p.Gln267=) c.632A>G (p.Lys211Arg) c.798A>G (p.Gln266=) c.629A>G (p.Lys210Arg) | |
| 11 | g.67490809A>T | CA381554467 | AIP | c.1116A>T c.620A>T (p.Lys207Met) n.1651A>T c.469-188A>T (n.469-188A>T) c.440A>T (p.Lys147Met) c.809A>T (p.Lys270Met) c.801A>T (p.Gln267His) c.632A>T (p.Lys211Met) c.798A>T (p.Gln266His) c.629A>T (p.Lys210Met) | |
| 11 | g.67490810G>A | CA475509436 | AIP | c.1117G>A c.621G>A (p.Lys207=) n.1652G>A c.469-187G>A (n.469-187G>A) c.441G>A (p.Lys147=) c.810G>A (p.Lys270=) c.802G>A (p.Ala268Thr) c.633G>A (p.Lys211=) c.799G>A (p.Ala267Thr) c.630G>A (p.Lys210=) | |
| 11 | g.67490810G>C | CA381554468 | AIP | c.1117G>C c.621G>C (p.Lys207Asn) n.1652G>C c.469-187G>C (n.469-187G>C) c.441G>C (p.Lys147Asn) c.810G>C (p.Lys270Asn) c.802G>C (p.Ala268Pro) c.633G>C (p.Lys211Asn) c.799G>C (p.Ala267Pro) c.630G>C (p.Lys210Asn) | |
| 11 | g.67490810G>T | CA381554469 | AIP | c.1117G>T c.621G>T (p.Lys207Asn) n.1652G>T c.469-187G>T (n.469-187G>T) c.441G>T (p.Lys147Asn) c.810G>T (p.Lys270Asn) c.802G>T (p.Ala268Ser) c.633G>T (p.Lys211Asn) c.799G>T (p.Ala267Ser) c.630G>T (p.Lys210Asn) | |
| 11 | g.67490811_67490812del | CA2695214807 | AIP | c.1118_1119del c.622_623del (p.Arg208GlyfsTer16) n.1653_1654del c.469-186_469-185del (n.469-186_469-185del) c.442_443del (p.Arg148GlyfsTer16) c.811_812del (p.Arg271GlyfsTer16) c.803_804del (p.Ala268GlyfsTer?) c.634_635del (p.Arg212GlyfsTer16) c.800_801del (p.Ala267GlyfsTer?) c.631_632del (p.Arg211GlyfsTer16) | |
| 11 | g.67490811C>A | CA475509441 | AIP | c.1118C>A c.622C>A (p.Arg208=) n.1653C>A c.469-186C>A (n.469-186C>A) c.442C>A (p.Arg148=) c.811C>A (p.Arg271=) c.803C>A (p.Ala268Glu) c.634C>A (p.Arg212=) c.800C>A (p.Ala267Glu) c.631C>A (p.Arg211=) | |
| 11 | g.67490811C= | CA1980172645 | AIP | c.1118C= c.622C= (p.Arg208=) n.1653C= c.469-186C= (n.469-186C=) c.442C= (p.Arg148=) c.811C= (p.Arg271=) c.803C= (p.Ala268=) c.634C= (p.Arg212=) c.800C= (p.Ala267=) c.631C= (p.Arg211=) | |
| 11 | g.67490811C>G | CA381554470 | AIP | c.1118C>G c.622C>G (p.Arg208Gly) n.1653C>G c.469-186C>G (n.469-186C>G) c.442C>G (p.Arg148Gly) c.811C>G (p.Arg271Gly) c.803C>G (p.Ala268Gly) c.634C>G (p.Arg212Gly) c.800C>G (p.Ala267Gly) c.631C>G (p.Arg211Gly) | |
| 11 | g.67490811C>T | CA344201 | AIP | c.1118C>T c.622C>T (p.Arg208Trp) n.1653C>T c.469-186C>T (n.469-186C>T) c.442C>T (p.Arg148Trp) c.811C>T (p.Arg271Trp) c.803C>T (p.Ala268Val) c.634C>T (p.Arg212Trp) c.800C>T (p.Ala267Val) c.631C>T (p.Arg211Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490812G>A | CA381554472 | AIP | c.1119G>A c.623G>A (p.Arg208Gln) n.1654G>A c.469-185G>A (n.469-185G>A) c.443G>A (p.Arg148Gln) c.812G>A (p.Arg271Gln) c.804G>A (p.Ala268=) c.635G>A (p.Arg212Gln) c.801G>A (p.Ala267=) c.632G>A (p.Arg211Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490812G>C | CA381554474 | AIP | c.1119G>C c.623G>C (p.Arg208Pro) n.1654G>C c.469-185G>C (n.469-185G>C) c.443G>C (p.Arg148Pro) c.812G>C (p.Arg271Pro) c.804G>C (p.Ala268=) c.635G>C (p.Arg212Pro) c.801G>C (p.Ala267=) c.632G>C (p.Arg211Pro) | |
| 11 | g.67490812G= | CA1980172646 | AIP | c.1119G= c.623G= (p.Arg208=) n.1654G= c.469-185G= (n.469-185G=) c.443G= (p.Arg148=) c.812G= (p.Arg271=) c.804G= (p.Ala268=) c.635G= (p.Arg212=) c.801G= (p.Ala267=) c.632G= (p.Arg211=) | |
| 11 | g.67490812G>T | CA381554480 | AIP | c.1119G>T c.623G>T (p.Arg208Leu) n.1654G>T c.469-185G>T (n.469-185G>T) c.443G>T (p.Arg148Leu) c.812G>T (p.Arg271Leu) c.804G>T (p.Ala268=) c.635G>T (p.Arg212Leu) c.801G>T (p.Ala267=) c.632G>T (p.Arg211Leu) | gnomAD v4 |
| 11 | g.67490813G>A | CA475509444 | AIP | c.1120G>A c.624G>A (p.Arg208=) n.1655G>A c.469-184G>A (n.469-184G>A) c.444G>A (p.Arg148=) c.813G>A (p.Arg271=) c.805G>A (p.Gly269Arg) c.636G>A (p.Arg212=) c.802G>A (p.Gly268Arg) c.633G>A (p.Arg211=) | |
| 11 | g.67490813G>C | CA475509448 | AIP | c.1120G>C c.624G>C (p.Arg208=) n.1655G>C c.469-184G>C (n.469-184G>C) c.444G>C (p.Arg148=) c.813G>C (p.Arg271=) c.805G>C (p.Gly269Arg) c.636G>C (p.Arg212=) c.802G>C (p.Gly268Arg) c.633G>C (p.Arg211=) | |
| 11 | g.67490813G>T | CA475509449 | AIP | c.1120G>T c.624G>T (p.Arg208=) n.1655G>T c.469-184G>T (n.469-184G>T) c.444G>T (p.Arg148=) c.813G>T (p.Arg271=) c.805G>T (p.Gly269Trp) c.636G>T (p.Arg212=) c.802G>T (p.Gly268Trp) c.633G>T (p.Arg211=) | |
| 11 | g.67490814G>A | CA381554486 | AIP | c.1121G>A c.625G>A (p.Gly209Ser) n.1656G>A c.469-183G>A (n.469-183G>A) c.445G>A (p.Gly149Ser) c.814G>A (p.Gly272Ser) c.806G>A (p.Gly269Glu) c.637G>A (p.Gly213Ser) c.803G>A (p.Gly268Glu) c.634G>A (p.Gly212Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490814G>C | CA381554485 | AIP | c.1121G>C c.625G>C (p.Gly209Arg) n.1656G>C c.469-183G>C (n.469-183G>C) c.445G>C (p.Gly149Arg) c.814G>C (p.Gly272Arg) c.806G>C (p.Gly269Ala) c.637G>C (p.Gly213Arg) c.803G>C (p.Gly268Ala) c.634G>C (p.Gly212Arg) | ClinVar |
| 11 | g.67490814G= | CA1980172647 | AIP | c.1121G= c.625G= (p.Gly209=) n.1656G= c.469-183G= (n.469-183G=) c.445G= (p.Gly149=) c.814G= (p.Gly272=) c.806G= (p.Gly269=) c.637G= (p.Gly213=) c.803G= (p.Gly268=) c.634G= (p.Gly212=) | |
| 11 | g.67490814G>T | CA381554483 | AIP | c.1121G>T c.625G>T (p.Gly209Cys) n.1656G>T c.469-183G>T (n.469-183G>T) c.445G>T (p.Gly149Cys) c.814G>T (p.Gly272Cys) c.806G>T (p.Gly269Val) c.637G>T (p.Gly213Cys) c.803G>T (p.Gly268Val) c.634G>T (p.Gly212Cys) | gnomAD v4 |
| 11 | g.67490815G>A | CA6140983 | AIP | c.1122G>A c.626G>A (p.Gly209Asp) n.1657G>A c.469-182G>A (n.469-182G>A) c.446G>A (p.Gly149Asp) c.815G>A (p.Gly272Asp) c.807G>A (p.Gly269=) c.638G>A (p.Gly213Asp) c.804G>A (p.Gly268=) c.635G>A (p.Gly212Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.67490815G>C | CA381554489 | AIP | c.1122G>C c.626G>C (p.Gly209Ala) n.1657G>C c.469-182G>C (n.469-182G>C) c.446G>C (p.Gly149Ala) c.815G>C (p.Gly272Ala) c.807G>C (p.Gly269=) c.638G>C (p.Gly213Ala) c.804G>C (p.Gly268=) c.635G>C (p.Gly212Ala) | |
| 11 | g.67490815G= | CA1980172648 | AIP | c.1122G= c.626G= (p.Gly209=) n.1657G= c.469-182G= (n.469-182G=) c.446G= (p.Gly149=) c.815G= (p.Gly272=) c.807G= (p.Gly269=) c.638G= (p.Gly213=) c.804G= (p.Gly268=) c.635G= (p.Gly212=) | |
| 11 | g.67490815G>T | CA381554491 | AIP | c.1122G>T c.626G>T (p.Gly209Val) n.1657G>T c.469-182G>T (n.469-182G>T) c.446G>T (p.Gly149Val) c.815G>T (p.Gly272Val) c.807G>T (p.Gly269=) c.638G>T (p.Gly213Val) c.804G>T (p.Gly268=) c.635G>T (p.Gly212Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490816del | CA475509455 | AIP | c.1123del c.627del (p.Lys210ArgfsTer?) n.1658del c.469-181del (n.469-181del) c.447del (p.Lys150ArgfsTer?) c.816del (p.Lys273ArgfsTer?) c.808del (p.Gln270LysfsTer?) c.639del (p.Lys214ArgfsTer?) c.805del (p.Gln269LysfsTer?) c.636del (p.Lys213ArgfsTer?) | ClinVar |
| 11 | g.67490816C>A | CA475509459 | AIP | c.1123C>A c.627C>A (p.Gly209=) n.1658C>A c.469-181C>A (n.469-181C>A) c.447C>A (p.Gly149=) c.816C>A (p.Gly272=) c.808C>A (p.Gln270Lys) c.639C>A (p.Gly213=) c.805C>A (p.Gln269Lys) c.636C>A (p.Gly212=) | |
| 11 | g.67490816C>G | CA475509461 | AIP | c.1123C>G c.627C>G (p.Gly209=) n.1658C>G c.469-181C>G (n.469-181C>G) c.447C>G (p.Gly149=) c.816C>G (p.Gly272=) c.808C>G (p.Gln270Glu) c.639C>G (p.Gly213=) c.805C>G (p.Gln269Glu) c.636C>G (p.Gly212=) | |
| 11 | g.67490816C>T | CA475509457 | AIP | c.1123C>T c.627C>T (p.Gly209=) n.1658C>T c.469-181C>T (n.469-181C>T) c.447C>T (p.Gly149=) c.816C>T (p.Gly272=) c.808C>T (p.Gln270Ter) c.639C>T (p.Gly213=) c.805C>T (p.Gln269Ter) c.636C>T (p.Gly212=) | ClinVar gnomAD v4 |
| 11 | g.67490817A>C | CA381554492 | AIP | c.1124A>C c.628A>C (p.Lys210Gln) n.1659A>C c.469-180A>C (n.469-180A>C) c.448A>C (p.Lys150Gln) c.817A>C (p.Lys273Gln) c.809A>C (p.Gln270Pro) c.640A>C (p.Lys214Gln) c.806A>C (p.Gln269Pro) c.637A>C (p.Lys213Gln) | |
| 11 | g.67490817A>G | CA381554494 | AIP | c.1124A>G c.628A>G (p.Lys210Glu) n.1659A>G c.469-180A>G (n.469-180A>G) c.448A>G (p.Lys150Glu) c.817A>G (p.Lys273Glu) c.809A>G (p.Gln270Arg) c.640A>G (p.Lys214Glu) c.806A>G (p.Gln269Arg) c.637A>G (p.Lys213Glu) | |
| 11 | g.67490817A>T | CA381554498 | AIP | c.1124A>T c.628A>T (p.Lys210Ter) n.1659A>T c.469-180A>T (n.469-180A>T) c.448A>T (p.Lys150Ter) c.817A>T (p.Lys273Ter) c.809A>T (p.Gln270Leu) c.640A>T (p.Lys214Ter) c.806A>T (p.Gln269Leu) c.637A>T (p.Lys213Ter) | |
| 11 | g.67490818A>C | CA381554500 | AIP | c.1125A>C c.629A>C (p.Lys210Thr) n.1660A>C c.469-179A>C (n.469-179A>C) c.449A>C (p.Lys150Thr) c.818A>C (p.Lys273Thr) c.810A>C (p.Gln270His) c.641A>C (p.Lys214Thr) c.807A>C (p.Gln269His) c.638A>C (p.Lys213Thr) | ClinVar |
| 11 | g.67490818A>G | CA381554503 | AIP | c.1125A>G c.629A>G (p.Lys210Arg) n.1660A>G c.469-179A>G (n.469-179A>G) c.449A>G (p.Lys150Arg) c.818A>G (p.Lys273Arg) c.810A>G (p.Gln270=) c.641A>G (p.Lys214Arg) c.807A>G (p.Gln269=) c.638A>G (p.Lys213Arg) | |
| 11 | g.67490818A>T | CA381554505 | AIP | c.1125A>T c.629A>T (p.Lys210Met) n.1660A>T c.469-179A>T (n.469-179A>T) c.449A>T (p.Lys150Met) c.818A>T (p.Lys273Met) c.810A>T (p.Gln270His) c.641A>T (p.Lys214Met) c.807A>T (p.Gln269His) c.638A>T (p.Lys213Met) | gnomAD v4 |
| 11 | g.67490819G>A | CA475509466 | AIP | c.1126G>A c.630G>A (p.Lys210=) n.1661G>A c.469-178G>A (n.469-178G>A) c.450G>A (p.Lys150=) c.819G>A (p.Lys273=) c.811G>A (p.Gly271Ser) c.642G>A (p.Lys214=) c.808G>A (p.Gly270Ser) c.639G>A (p.Lys213=) | ClinVar |
| 11 | g.67490819G>C | CA381554508 | AIP | c.1126G>C c.630G>C (p.Lys210Asn) n.1661G>C c.469-178G>C (n.469-178G>C) c.450G>C (p.Lys150Asn) c.819G>C (p.Lys273Asn) c.811G>C (p.Gly271Arg) c.642G>C (p.Lys214Asn) c.808G>C (p.Gly270Arg) c.639G>C (p.Lys213Asn) | |
| 11 | g.67490819G>T | CA381554512 | AIP | c.1126G>T c.630G>T (p.Lys210Asn) n.1661G>T c.469-178G>T (n.469-178G>T) c.450G>T (p.Lys150Asn) c.819G>T (p.Lys273Asn) c.811G>T (p.Gly271Cys) c.642G>T (p.Lys214Asn) c.808G>T (p.Gly270Cys) c.639G>T (p.Lys213Asn) | |
| 11 | g.67490820G>A | CA381554520 | AIP | c.1127G>A c.631G>A (p.Ala211Thr) n.1662G>A c.469-177G>A (n.469-177G>A) c.451G>A (p.Ala151Thr) c.820G>A (p.Ala274Thr) c.812G>A (p.Gly271Asp) c.643G>A (p.Ala215Thr) c.809G>A (p.Gly270Asp) c.640G>A (p.Ala214Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490820G>C | CA381554523 | AIP | c.1127G>C c.631G>C (p.Ala211Pro) n.1662G>C c.469-177G>C (n.469-177G>C) c.451G>C (p.Ala151Pro) c.820G>C (p.Ala274Pro) c.812G>C (p.Gly271Ala) c.643G>C (p.Ala215Pro) c.809G>C (p.Gly270Ala) c.640G>C (p.Ala214Pro) | |
| 11 | g.67490820G>T | CA381554516 | AIP | c.1127G>T c.631G>T (p.Ala211Ser) n.1662G>T c.469-177G>T (n.469-177G>T) c.451G>T (p.Ala151Ser) c.820G>T (p.Ala274Ser) c.812G>T (p.Gly271Val) c.643G>T (p.Ala215Ser) c.809G>T (p.Gly270Val) c.640G>T (p.Ala214Ser) |