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 |
|---|---|---|---|---|---|
| 7 | g.150959660_150959671del | CA2695208665 | KCNH2 | n.1209_1220del c.376_387del (p.Ile126_Phe129del) c.199_210del (p.Ile67_Phe70del) n.599_610del c.76_87del (p.Ile26_Phe29del) c.226_237del (p.Ile76_Phe79del) | |
| 7 | g.150959668_150959672del | CA2511849902 | KCNH2 | n.1205_1209del c.372_376del (p.Met124IlefsTer19) c.195_199del (p.Met65IlefsTer?) n.595_599del c.72_76del (p.Met24IlefsTer19) c.222_226del (p.Met74IlefsTer19) c.195_199del (p.Met65IlefsTer19) | |
| 7 | g.150959670A= | CA1752420016 | KCNH2 | n.1207T= c.374T= (p.Phe125=) c.197T= (p.Phe66=) n.597T= c.74T= (p.Phe25=) c.224T= (p.Phe75=) | |
| 7 | g.150959670A>C | CA008385 | KCNH2 | n.1207T>G c.374T>G (p.Phe125Cys) c.197T>G (p.Phe66Cys) n.597T>G c.74T>G (p.Phe25Cys) c.224T>G (p.Phe75Cys) | ClinVar dbSNP |
| 7 | g.150959670A>G | CA369863792 | KCNH2 | n.1207T>C c.374T>C (p.Phe125Ser) c.197T>C (p.Phe66Ser) n.597T>C c.74T>C (p.Phe25Ser) c.224T>C (p.Phe75Ser) | |
| 7 | g.150959670A>T | CA369863793 | KCNH2 | n.1207T>A c.374T>A (p.Phe125Tyr) c.197T>A (p.Phe66Tyr) n.597T>A c.74T>A (p.Phe25Tyr) c.224T>A (p.Phe75Tyr) | |
| 7 | g.150959670_150959671insCCAC | CA008376 | KCNH2 | n.1206_1207insGTGG c.373_374insGTGG (p.Phe125CysfsTer21) c.196_197insGTGG (p.Phe66CysfsTer?) n.596_597insGTGG c.73_74insGTGG (p.Phe25CysfsTer21) c.223_224insGTGG (p.Phe75CysfsTer21) c.196_197insGTGG (p.Phe66CysfsTer21) | ClinVar dbSNP |
| 7 | g.150959671A= | CA1752420024 | KCNH2 | n.1206T= c.373T= (p.Phe125=) c.196T= (p.Phe66=) n.596T= c.73T= (p.Phe25=) c.223T= (p.Phe75=) | |
| 7 | g.150959671A>C | CA369863794 | KCNH2 | n.1206T>G c.373T>G (p.Phe125Val) c.196T>G (p.Phe66Val) n.596T>G c.73T>G (p.Phe25Val) c.223T>G (p.Phe75Val) | |
| 7 | g.150959671A>G | CA369863795 | KCNH2 | n.1206T>C c.373T>C (p.Phe125Leu) c.196T>C (p.Phe66Leu) n.596T>C c.73T>C (p.Phe25Leu) c.223T>C (p.Phe75Leu) | ClinVar dbSNP |
| 7 | g.150959671A>T | CA369863796 | KCNH2 | n.1206T>A c.373T>A (p.Phe125Ile) c.196T>A (p.Phe66Ile) n.596T>A c.73T>A (p.Phe25Ile) c.223T>A (p.Phe75Ile) | |
| 7 | g.150959672C>A | CA369863797 | KCNH2 | n.1205G>T c.372G>T (p.Met124Ile) c.195G>T (p.Met65Ile) n.595G>T c.72G>T (p.Met24Ile) c.222G>T (p.Met74Ile) | |
| 7 | g.150959672C>G | CA369863798 | KCNH2 | n.1205G>C c.372G>C (p.Met124Ile) c.195G>C (p.Met65Ile) n.595G>C c.72G>C (p.Met24Ile) c.222G>C (p.Met74Ile) | |
| 7 | g.150959672C>T | CA369863799 | KCNH2 | n.1205G>A c.372G>A (p.Met124Ile) c.195G>A (p.Met65Ile) n.595G>A c.72G>A (p.Met24Ile) c.222G>A (p.Met74Ile) | |
| 7 | g.150959673A= | CA1752420030 | KCNH2 | n.1204T= c.371T= (p.Met124=) c.194T= (p.Met65=) n.594T= c.71T= (p.Met24=) c.221T= (p.Met74=) | |
| 7 | g.150959673A>C | CA008369 | KCNH2 | n.1204T>G c.371T>G (p.Met124Arg) c.194T>G (p.Met65Arg) n.594T>G c.71T>G (p.Met24Arg) c.221T>G (p.Met74Arg) | ClinVar dbSNP |
| 7 | g.150959673A>G | CA008362 | KCNH2 | n.1204T>C c.371T>C (p.Met124Thr) c.194T>C (p.Met65Thr) n.594T>C c.71T>C (p.Met24Thr) c.221T>C (p.Met74Thr) | ClinVar dbSNP |
| 7 | g.150959673A>T | CA369863800 | KCNH2 | n.1204T>A c.371T>A (p.Met124Lys) c.194T>A (p.Met65Lys) n.594T>A c.71T>A (p.Met24Lys) c.221T>A (p.Met74Lys) | |
| 7 | g.150959677_150959679del | CA2697549701 | KCNH2 | n.1202_1204del c.369_371del (p.Ile123del) c.192_194del (p.Ile64del) n.592_594del c.69_71del (p.Ile23del) c.219_221del (p.Ile73del) | ClinVar |
| 7 | g.150959674T>A | CA369863801 | KCNH2 | n.1203A>T c.370A>T (p.Met124Leu) c.193A>T (p.Met65Leu) n.593A>T c.70A>T (p.Met24Leu) c.220A>T (p.Met74Leu) | |
| 7 | g.150959674T>C | CA369863803 | KCNH2 | n.1203A>G c.370A>G (p.Met124Val) c.193A>G (p.Met65Val) n.593A>G c.70A>G (p.Met24Val) c.220A>G (p.Met74Val) | gnomAD v4 |
| 7 | g.150959674T>G | CA369863802 | KCNH2 | n.1203A>C c.370A>C (p.Met124Leu) c.193A>C (p.Met65Leu) n.593A>C c.70A>C (p.Met24Leu) c.220A>C (p.Met74Leu) | gnomAD v4 |
| 7 | g.150959675G>A | CA458646937 | KCNH2 | n.1202C>T c.369C>T (p.Ile123=) c.192C>T (p.Ile64=) n.592C>T c.69C>T (p.Ile23=) c.219C>T (p.Ile73=) | |
| 7 | g.150959675G>C | CA369863804 | KCNH2 | n.1202C>G c.369C>G (p.Ile123Met) c.192C>G (p.Ile64Met) n.592C>G c.69C>G (p.Ile23Met) c.219C>G (p.Ile73Met) | |
| 7 | g.150959675G>T | CA458646938 | KCNH2 | n.1202C>A c.369C>A (p.Ile123=) c.192C>A (p.Ile64=) n.592C>A c.69C>A (p.Ile23=) c.219C>A (p.Ile73=) | |
| 7 | g.150959676A>C | CA369863805 | KCNH2 | n.1201T>G c.368T>G (p.Ile123Ser) c.191T>G (p.Ile64Ser) n.591T>G c.68T>G (p.Ile23Ser) c.218T>G (p.Ile73Ser) | |
| 7 | g.150959676A>G | CA369863806 | KCNH2 | n.1201T>C c.368T>C (p.Ile123Thr) c.191T>C (p.Ile64Thr) n.591T>C c.68T>C (p.Ile23Thr) c.218T>C (p.Ile73Thr) | |
| 7 | g.150959676A>T | CA369863807 | KCNH2 | n.1201T>A c.368T>A (p.Ile123Asn) c.191T>A (p.Ile64Asn) n.591T>A c.68T>A (p.Ile23Asn) c.218T>A (p.Ile73Asn) | |
| 7 | g.150959677T>A | CA369863808 | KCNH2 | n.1200A>T c.367A>T (p.Ile123Phe) c.190A>T (p.Ile64Phe) n.590A>T c.67A>T (p.Ile23Phe) c.217A>T (p.Ile73Phe) | |
| 7 | g.150959677T>C | CA369863809 | KCNH2 | n.1200A>G c.367A>G (p.Ile123Val) c.190A>G (p.Ile64Val) n.590A>G c.67A>G (p.Ile23Val) c.217A>G (p.Ile73Val) | |
| 7 | g.150959677T>G | CA369863810 | KCNH2 | n.1200A>C c.367A>C (p.Ile123Leu) c.190A>C (p.Ile64Leu) n.590A>C c.67A>C (p.Ile23Leu) c.217A>C (p.Ile73Leu) | dbSNP |
| 7 | g.150959678del | CA2539179769 | KCNH2 | n.1199del c.366del (p.Ile123SerfsTer10) c.189del (p.Ile64SerfsTer10) n.589del c.66del (p.Ile23SerfsTer10) c.216del (p.Ile73SerfsTer10) | |
| 7 | g.150959678G>A | CA071160 | KCNH2 | n.1199C>T c.366C>T (p.Val122=) c.189C>T (p.Val63=) n.589C>T c.66C>T (p.Val22=) c.216C>T (p.Val72=) | gnomAD v4 |
| 7 | g.150959678G>C | CA458646940 | KCNH2 | n.1199C>G c.366C>G (p.Val122=) c.189C>G (p.Val63=) n.589C>G c.66C>G (p.Val22=) c.216C>G (p.Val72=) | |
| 7 | g.150959678G>T | CA458646939 | KCNH2 | n.1199C>A c.366C>A (p.Val122=) c.189C>A (p.Val63=) n.589C>A c.66C>A (p.Val22=) c.216C>A (p.Val72=) | |
| 7 | g.150959679A>C | CA369863811 | KCNH2 | n.1198T>G c.365T>G (p.Val122Gly) c.188T>G (p.Val63Gly) n.588T>G c.65T>G (p.Val22Gly) c.215T>G (p.Val72Gly) | |
| 7 | g.150959679A>G | CA369863812 | KCNH2 | n.1198T>C c.365T>C (p.Val122Ala) c.188T>C (p.Val63Ala) n.588T>C c.65T>C (p.Val22Ala) c.215T>C (p.Val72Ala) | |
| 7 | g.150959679A>T | CA369863813 | KCNH2 | n.1198T>A c.365T>A (p.Val122Asp) c.188T>A (p.Val63Asp) n.588T>A c.65T>A (p.Val22Asp) c.215T>A (p.Val72Asp) | |
| 7 | g.150959680C>A | CA369863814 | KCNH2 | n.1197G>T c.364G>T (p.Val122Phe) c.187G>T (p.Val63Phe) n.587G>T c.64G>T (p.Val22Phe) c.214G>T (p.Val72Phe) | |
| 7 | g.150959680C>G | CA369863815 | KCNH2 | n.1197G>C c.364G>C (p.Val122Leu) c.187G>C (p.Val63Leu) n.587G>C c.64G>C (p.Val22Leu) c.214G>C (p.Val72Leu) | |
| 7 | g.150959680C>T | CA369863816 | KCNH2 | n.1197G>A c.364G>A (p.Val122Ile) c.187G>A (p.Val63Ile) n.587G>A c.64G>A (p.Val22Ile) c.214G>A (p.Val72Ile) | |
| 7 | g.150959681A= | CA1752420034 | KCNH2 | n.1196T= c.363T= (p.Ala121=) c.186T= (p.Ala62=) n.586T= c.63T= (p.Ala21=) c.213T= (p.Ala71=) | |
| 7 | g.150959681A>C | CA458646941 | KCNH2 | n.1196T>G c.363T>G (p.Ala121=) c.186T>G (p.Ala62=) n.586T>G c.63T>G (p.Ala21=) c.213T>G (p.Ala71=) | |
| 7 | g.150959681A>G | CA458646942 | KCNH2 | n.1196T>C c.363T>C (p.Ala121=) c.186T>C (p.Ala62=) n.586T>C c.63T>C (p.Ala21=) c.213T>C (p.Ala71=) | dbSNP |
| 7 | g.150959681A>T | CA458646943 | KCNH2 | n.1196T>A c.363T>A (p.Ala121=) c.186T>A (p.Ala62=) n.586T>A c.63T>A (p.Ala21=) c.213T>A (p.Ala71=) | |
| 7 | g.150959682G>A | CA369863819 | KCNH2 | n.1195C>T c.362C>T (p.Ala121Val) c.185C>T (p.Ala62Val) n.585C>T c.62C>T (p.Ala21Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150959682G>C | CA369863817 | KCNH2 | n.1195C>G c.362C>G (p.Ala121Gly) c.185C>G (p.Ala62Gly) n.585C>G c.62C>G (p.Ala21Gly) c.212C>G (p.Ala71Gly) | |
| 7 | g.150959682G= | CA1752420039 | KCNH2 | n.1195C= c.362C= (p.Ala121=) c.185C= (p.Ala62=) n.585C= c.62C= (p.Ala21=) c.212C= (p.Ala71=) | |
| 7 | g.150959682G>T | CA369863818 | KCNH2 | n.1195C>A c.362C>A (p.Ala121Asp) c.185C>A (p.Ala62Asp) n.585C>A c.62C>A (p.Ala21Asp) c.212C>A (p.Ala71Asp) | |
| 7 | g.150959682_150959683delinsGC | CA1752420038 | KCNH2 | n.1194_1195delinsGC c.361_362delinsGC (p.Ala121=) c.184_185delinsGC (p.Ala62=) n.584_585delinsGC c.61_62delinsGC (p.Ala21=) c.211_212delinsGC (p.Ala71=) |