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.150958053_150958148del | CA2580077681 | KCNH2 | n.1665_1749+11del c.832_916+11del c.484_568+11del n.1055_1139+11del c.532_616+11del c.682_766+11del c.655_739+11del | ClinVar |
| 7 | g.150958091_150958151del | CA2685607217 | KCNH2 | n.1662_1722del c.829_889del (p.Ala277ProfsTer?) c.481_541del (p.Ala161ProfsTer?) n.1052_1112del c.529_589del (p.Ala177ProfsTer?) c.679_739del (p.Ala227ProfsTer?) c.652_712del (p.Ala218ProfsTer?) | gnomAD v4 |
| 7 | g.150958121_150958206delinsACGCCTCGGGCTC | CA2697549692 | KCNH2 | n.1602_1687delinsGAGCCCGAGGCGT c.769_854delinsGAGCCCGAGGCGT (p.Asn257GlufsTer?) c.421_506delinsGAGCCCGAGGCGT (p.Asn141GlufsTer?) n.992_1077delinsGAGCCCGAGGCGT c.469_554delinsGAGCCCGAGGCGT (p.Asn157GlufsTer?) c.619_704delinsGAGCCCGAGGCGT (p.Asn207GlufsTer?) c.592_677delinsGAGCCCGAGGCGT (p.Asn198GlufsTer?) | ClinVar |
| 7 | g.150958145G>A | CA369862328 | KCNH2 | n.1663C>T c.830C>T (p.Ala277Val) c.482C>T (p.Ala161Val) n.1053C>T c.530C>T (p.Ala177Val) c.680C>T (p.Ala227Val) c.653C>T (p.Ala218Val) | gnomAD v4 |
| 7 | g.150958145G>C | CA369862326 | KCNH2 | n.1663C>G c.830C>G (p.Ala277Gly) c.482C>G (p.Ala161Gly) n.1053C>G c.530C>G (p.Ala177Gly) c.680C>G (p.Ala227Gly) c.653C>G (p.Ala218Gly) | |
| 7 | g.150958145G= | CA1752417939 | KCNH2 | n.1663C= c.830C= (p.Ala277=) c.482C= (p.Ala161=) n.1053C= c.530C= (p.Ala177=) c.680C= (p.Ala227=) c.653C= (p.Ala218=) | |
| 7 | g.150958145G>T | CA008879 | KCNH2 | n.1663C>A c.830C>A (p.Ala277Asp) c.482C>A (p.Ala161Asp) n.1053C>A c.530C>A (p.Ala177Asp) c.680C>A (p.Ala227Asp) c.653C>A (p.Ala218Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958145_150958146insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC | CA2554201026 | KCNH2 | n.1662_1663insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer) c.481_482insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala161delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer) n.1052_1053insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT c.529_530insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala177delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer) c.679_680insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala227delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer) c.652_653insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala218delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer) | |
| 7 | g.150958146C>A | CA369862333 | KCNH2 | n.1662G>T c.829G>T (p.Ala277Ser) c.481G>T (p.Ala161Ser) n.1052G>T c.529G>T (p.Ala177Ser) c.679G>T (p.Ala227Ser) c.652G>T (p.Ala218Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958146C= | CA1752417945 | KCNH2 | n.1662G= c.829G= (p.Ala277=) c.481G= (p.Ala161=) n.1052G= c.529G= (p.Ala177=) c.679G= (p.Ala227=) c.652G= (p.Ala218=) | |
| 7 | g.150958146C>G | CA369862330 | KCNH2 | n.1662G>C c.829G>C (p.Ala277Pro) c.481G>C (p.Ala161Pro) n.1052G>C c.529G>C (p.Ala177Pro) c.679G>C (p.Ala227Pro) c.652G>C (p.Ala218Pro) | gnomAD v4 |
| 7 | g.150958146C>T | CA369862331 | KCNH2 | n.1662G>A c.829G>A (p.Ala277Thr) c.481G>A (p.Ala161Thr) n.1052G>A c.529G>A (p.Ala177Thr) c.679G>A (p.Ala227Thr) c.652G>A (p.Ala218Thr) | gnomAD v4 |
| 7 | g.150958147del | CA2685607480 | KCNH2 | n.1661del c.828del (p.Cys276TrpfsTer?) c.480del (p.Cys160TrpfsTer?) n.1051del c.528del (p.Cys176TrpfsTer?) c.678del (p.Cys226TrpfsTer?) c.651del (p.Cys217TrpfsTer?) | gnomAD v4 |
| 7 | g.150958147G>A | CA458871899 | KCNH2 | n.1661C>T c.828C>T (p.Cys276=) c.480C>T (p.Cys160=) n.1051C>T c.528C>T (p.Cys176=) c.678C>T (p.Cys226=) c.651C>T (p.Cys217=) | dbSNP gnomAD v4 |
| 7 | g.150958147G>C | CA369862334 | KCNH2 | n.1661C>G c.828C>G (p.Cys276Trp) c.480C>G (p.Cys160Trp) n.1051C>G c.528C>G (p.Cys176Trp) c.678C>G (p.Cys226Trp) c.651C>G (p.Cys217Trp) | gnomAD v4 |
| 7 | g.150958147G= | CA1752417947 | KCNH2 | n.1661C= c.828C= (p.Cys276=) c.480C= (p.Cys160=) n.1051C= c.528C= (p.Cys176=) c.678C= (p.Cys226=) c.651C= (p.Cys217=) | |
| 7 | g.150958147G>T | CA369862336 | KCNH2 | n.1661C>A c.828C>A (p.Cys276Ter) c.480C>A (p.Cys160Ter) n.1051C>A c.528C>A (p.Cys176Ter) c.678C>A (p.Cys226Ter) c.651C>A (p.Cys217Ter) | gnomAD v4 |
| 7 | g.150958148C>A | CA369862338 | KCNH2 | n.1660G>T c.827G>T (p.Cys276Phe) c.479G>T (p.Cys160Phe) n.1050G>T c.527G>T (p.Cys176Phe) c.677G>T (p.Cys226Phe) c.650G>T (p.Cys217Phe) | gnomAD v4 |
| 7 | g.150958148C>G | CA369862340 | KCNH2 | n.1660G>C c.827G>C (p.Cys276Ser) c.479G>C (p.Cys160Ser) n.1050G>C c.527G>C (p.Cys176Ser) c.677G>C (p.Cys226Ser) c.650G>C (p.Cys217Ser) | gnomAD v4 |
| 7 | g.150958148C>T | CA369862342 | KCNH2 | n.1660G>A c.827G>A (p.Cys276Tyr) c.479G>A (p.Cys160Tyr) n.1050G>A c.527G>A (p.Cys176Tyr) c.677G>A (p.Cys226Tyr) c.650G>A (p.Cys217Tyr) | dbSNP gnomAD v4 |
| 7 | g.150958148_150958149delinsCA | CA1752417949 | KCNH2 | n.1659_1660delinsTG c.826_827delinsTG (p.Cys276=) c.478_479delinsTG (p.Cys160=) n.1049_1050delinsTG c.526_527delinsTG (p.Cys176=) c.676_677delinsTG (p.Cys226=) c.649_650delinsTG (p.Cys217=) | |
| 7 | g.150958149del | CA008861 | KCNH2 | n.1659del c.826del (p.Cys276AlafsTer?) c.478del (p.Cys160AlafsTer?) n.1049del c.526del (p.Cys176AlafsTer?) c.676del (p.Cys226AlafsTer?) c.649del (p.Cys217AlafsTer?) | ClinVar dbSNP |
| 7 | g.150958149A>C | CA369862344 | KCNH2 | n.1659T>G c.826T>G (p.Cys276Gly) c.478T>G (p.Cys160Gly) n.1049T>G c.526T>G (p.Cys176Gly) c.676T>G (p.Cys226Gly) c.649T>G (p.Cys217Gly) | |
| 7 | g.150958149A>G | CA072176 | KCNH2 | n.1659T>C c.826T>C (p.Cys276Arg) c.478T>C (p.Cys160Arg) n.1049T>C c.526T>C (p.Cys176Arg) c.676T>C (p.Cys226Arg) c.649T>C (p.Cys217Arg) | gnomAD v4 |
| 7 | g.150958149A>T | CA369862346 | KCNH2 | n.1659T>A c.826T>A (p.Cys276Ser) c.478T>A (p.Cys160Ser) n.1049T>A c.526T>A (p.Cys176Ser) c.676T>A (p.Cys226Ser) c.649T>A (p.Cys217Ser) | gnomAD v4 |
| 7 | g.150958150G>A | CA458871904 | KCNH2 | n.1658C>T c.825C>T (p.Ser275=) c.477C>T (p.Ser159=) n.1048C>T c.525C>T (p.Ser175=) c.675C>T (p.Ser225=) c.648C>T (p.Ser216=) | gnomAD v4 |
| 7 | g.150958150G>C | CA369862349 | KCNH2 | n.1658C>G c.825C>G (p.Ser275Arg) c.477C>G (p.Ser159Arg) n.1048C>G c.525C>G (p.Ser175Arg) c.675C>G (p.Ser225Arg) c.648C>G (p.Ser216Arg) | ClinVar dbSNP |
| 7 | g.150958150G= | CA1752417956 | KCNH2 | n.1658C= c.825C= (p.Ser275=) c.477C= (p.Ser159=) n.1048C= c.525C= (p.Ser175=) c.675C= (p.Ser225=) c.648C= (p.Ser216=) | |
| 7 | g.150958150G>T | CA369862350 | KCNH2 | n.1658C>A c.825C>A (p.Ser275Arg) c.477C>A (p.Ser159Arg) n.1048C>A c.525C>A (p.Ser175Arg) c.675C>A (p.Ser225Arg) c.648C>A (p.Ser216Arg) | gnomAD v4 |
| 7 | g.150958151C>A | CA369862355 | KCNH2 | n.1657G>T c.824G>T (p.Ser275Ile) c.476G>T (p.Ser159Ile) n.1047G>T c.524G>T (p.Ser175Ile) c.674G>T (p.Ser225Ile) c.647G>T (p.Ser216Ile) | gnomAD v4 |
| 7 | g.150958151C>G | CA369862353 | KCNH2 | n.1657G>C c.824G>C (p.Ser275Thr) c.476G>C (p.Ser159Thr) n.1047G>C c.524G>C (p.Ser175Thr) c.674G>C (p.Ser225Thr) c.647G>C (p.Ser216Thr) | |
| 7 | g.150958151C>T | CA369862352 | KCNH2 | n.1657G>A c.824G>A (p.Ser275Asn) c.476G>A (p.Ser159Asn) n.1047G>A c.524G>A (p.Ser175Asn) c.674G>A (p.Ser225Asn) c.647G>A (p.Ser216Asn) | gnomAD v4 |
| 7 | g.150958152T>A | CA369862356 | KCNH2 | n.1656A>T c.823A>T (p.Ser275Cys) c.475A>T (p.Ser159Cys) n.1046A>T c.523A>T (p.Ser175Cys) c.673A>T (p.Ser225Cys) c.646A>T (p.Ser216Cys) | gnomAD v4 |
| 7 | g.150958152T>C | CA369862358 | KCNH2 | n.1656A>G c.823A>G (p.Ser275Gly) c.475A>G (p.Ser159Gly) n.1046A>G c.523A>G (p.Ser175Gly) c.673A>G (p.Ser225Gly) c.646A>G (p.Ser216Gly) | gnomAD v4 |
| 7 | g.150958152T>G | CA369862359 | KCNH2 | n.1656A>C c.823A>C (p.Ser275Arg) c.475A>C (p.Ser159Arg) n.1046A>C c.523A>C (p.Ser175Arg) c.673A>C (p.Ser225Arg) c.646A>C (p.Ser216Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958152T= | CA1752417965 | KCNH2 | n.1656A= c.823A= (p.Ser275=) c.475A= (p.Ser159=) n.1046A= c.523A= (p.Ser175=) c.673A= (p.Ser225=) c.646A= (p.Ser216=) | |
| 7 | g.150958153T>A | CA369862361 | KCNH2 | n.1655A>T c.822A>T (p.Glu274Asp) c.474A>T (p.Glu158Asp) n.1045A>T c.522A>T (p.Glu174Asp) c.672A>T (p.Glu224Asp) c.645A>T (p.Glu215Asp) | |
| 7 | g.150958153T>C | CA458871907 | KCNH2 | n.1655A>G c.822A>G (p.Glu274=) c.474A>G (p.Glu158=) n.1045A>G c.522A>G (p.Glu174=) c.672A>G (p.Glu224=) c.645A>G (p.Glu215=) | gnomAD v4 |
| 7 | g.150958153T>G | CA369862363 | KCNH2 | n.1655A>C c.822A>C (p.Glu274Asp) c.474A>C (p.Glu158Asp) n.1045A>C c.522A>C (p.Glu174Asp) c.672A>C (p.Glu224Asp) c.645A>C (p.Glu215Asp) | |
| 7 | g.150958154T>A | CA369862365 | KCNH2 | n.1654A>T c.821A>T (p.Glu274Val) c.473A>T (p.Glu158Val) n.1044A>T c.521A>T (p.Glu174Val) c.671A>T (p.Glu224Val) c.644A>T (p.Glu215Val) | |
| 7 | g.150958154T>C | CA369862367 | KCNH2 | n.1654A>G c.821A>G (p.Glu274Gly) c.473A>G (p.Glu158Gly) n.1044A>G c.521A>G (p.Glu174Gly) c.671A>G (p.Glu224Gly) c.644A>G (p.Glu215Gly) | ClinVar gnomAD v4 |
| 7 | g.150958154T>G | CA369862369 | KCNH2 | n.1654A>C c.821A>C (p.Glu274Ala) c.473A>C (p.Glu158Ala) n.1044A>C c.521A>C (p.Glu174Ala) c.671A>C (p.Glu224Ala) c.644A>C (p.Glu215Ala) | |
| 7 | g.150958156_150958168del | CA2573141814 | KCNH2 | n.1642_1654del c.809_821del (p.Thr270LysfsTer?) c.461_473del (p.Thr154LysfsTer?) n.1032_1044del c.509_521del (p.Thr170LysfsTer?) c.659_671del (p.Thr220LysfsTer?) c.632_644del (p.Thr211LysfsTer?) | ClinVar dbSNP |
| 7 | g.150958155C>A | CA369862371 | KCNH2 | n.1653G>T c.820G>T (p.Glu274Ter) c.472G>T (p.Glu158Ter) n.1043G>T c.520G>T (p.Glu174Ter) c.670G>T (p.Glu224Ter) c.643G>T (p.Glu215Ter) | gnomAD v4 |
| 7 | g.150958155C>G | CA369862373 | KCNH2 | n.1653G>C c.820G>C (p.Glu274Gln) c.472G>C (p.Glu158Gln) n.1043G>C c.520G>C (p.Glu174Gln) c.670G>C (p.Glu224Gln) c.643G>C (p.Glu215Gln) | |
| 7 | g.150958155C>T | CA369862374 | KCNH2 | n.1653G>A c.820G>A (p.Glu274Lys) c.472G>A (p.Glu158Lys) n.1043G>A c.520G>A (p.Glu174Lys) c.670G>A (p.Glu224Lys) c.643G>A (p.Glu215Lys) | |
| 7 | g.150958156T>A | CA458871911 | KCNH2 | n.1652A>T c.819A>T (p.Arg273=) c.471A>T (p.Arg157=) n.1042A>T c.519A>T (p.Arg173=) c.669A>T (p.Arg223=) c.642A>T (p.Arg214=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958156T>C | CA458871913 | KCNH2 | n.1652A>G c.819A>G (p.Arg273=) c.471A>G (p.Arg157=) n.1042A>G c.519A>G (p.Arg173=) c.669A>G (p.Arg223=) c.642A>G (p.Arg214=) | ClinVar gnomAD v4 |
| 7 | g.150958156T>G | CA458871914 | KCNH2 | n.1652A>C c.819A>C (p.Arg273=) c.471A>C (p.Arg157=) n.1042A>C c.519A>C (p.Arg173=) c.669A>C (p.Arg223=) c.642A>C (p.Arg214=) | |
| 7 | g.150958156T= | CA1752417972 | KCNH2 | n.1652A= c.819A= (p.Arg273=) c.471A= (p.Arg157=) n.1042A= c.519A= (p.Arg173=) c.669A= (p.Arg223=) c.642A= (p.Arg214=) |