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.150958394_150958422delinsCCCGGT | CA2499218813 | KCNH2 | n.1386_1414delinsACCGGG c.553_581delinsACCGGG (p.Ala185ThrfsTer?) c.235-30_235-2delinsACCGGG (n.235-30_235-2delinsACCGGG) n.776_804delinsACCGGG c.253_281delinsACCGGG (p.Ala85ThrfsTer?) c.403_431delinsACCGGG (p.Ala135ThrfsTer?) c.376_404delinsACCGGG (p.Ala126ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150958411_150958425del | CA658656015 | KCNH2 | n.1388_1402del c.555_569del (p.Gly186_Ala190del) c.235-28_235-14del (n.235-28_235-14del) n.778_792del c.255_269del (p.Gly86_Ala90del) c.405_419del (p.Gly136_Ala140del) c.378_392del (p.Gly127_Ala131del) | ClinVar dbSNP |
| 7 | g.150958422_150958430dup | CA305297 | KCNH2 | n.1393_1401dup c.560_568dup (p.Gly189_Ala190insGlyAlaGly) c.235-23_235-15dup (n.235-23_235-15dup) n.783_791dup c.260_268dup (p.Gly89_Ala90insGlyAlaGly) c.410_418dup (p.Gly139_Ala140insGlyAlaGly) c.383_391dup (p.Gly130_Ala131insGlyAlaGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958413_150958430dup | CA916080381 | KCNH2 | n.1384_1401dup c.551_568dup (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) c.235-32_235-15dup (n.235-32_235-15dup) n.774_791dup c.251_268dup (p.Gly89_Ala90insGlyAlaGlyGlyAlaGly) c.401_418dup (p.Gly139_Ala140insGlyAlaGlyGlyAlaGly) c.374_391dup (p.Gly130_Ala131insGlyAlaGlyGlyAlaGly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958422_150958430del | CA008582 | KCNH2 | n.1393_1401del c.560_568del (p.Gly187_Gly189del) c.235-23_235-15del (n.235-23_235-15del) n.783_791del c.260_268del (p.Gly87_Gly89del) c.410_418del (p.Gly137_Gly139del) c.383_391del (p.Gly128_Gly130del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958413_150958430del | CA2685608743 | KCNH2 | n.1384_1401del c.551_568del (p.Gly184_Gly189del) c.235-32_235-15del (n.235-32_235-15del) n.774_791del c.251_268del (p.Gly84_Gly89del) c.401_418del (p.Gly134_Gly139del) c.374_391del (p.Gly125_Gly130del) | gnomAD v4 |
| 7 | g.150958415_150958422del | CA2580077702 | KCNH2 | n.1386_1393del c.553_560del (p.Ala185ArgfsTer?) c.235-30_235-23del (n.235-30_235-23del) n.776_783del c.253_260del (p.Ala85ArgfsTer?) c.403_410del (p.Ala135ArgfsTer?) c.376_383del (p.Ala126ArgfsTer?) | ClinVar |
| 7 | g.150958418_150958430del | CA2580077703 | KCNH2 | n.1381_1393del c.548_560del (p.Gly183AlafsTer14) c.235-35_235-23del (n.235-35_235-23del) n.771_783del c.248_260del (p.Gly83AlafsTer14) c.398_410del (p.Gly133AlafsTer14) c.371_383del (p.Gly124AlafsTer14) | ClinVar |
| 7 | g.150958420_150958453del | CA2695208647 | KCNH2 | n.1358_1391del c.525_558del (p.Arg176AlafsTer14) c.235-58_235-25del (n.235-58_235-25del) n.748_781del c.225_258del (p.Arg76AlafsTer14) c.375_408del (p.Arg126AlafsTer14) c.348_381del (p.Arg117AlafsTer14) | |
| 7 | g.150958421_150958428del | CA2695208648 | KCNH2 | n.1382_1389del c.549_556del (p.Gly184ArgfsTer?) c.235-34_235-27del (n.235-34_235-27del) n.772_779del c.249_256del (p.Gly84ArgfsTer?) c.399_406del (p.Gly134ArgfsTer?) c.372_379del (p.Gly125ArgfsTer?) | |
| 7 | g.150958423_150958435del | CA2499218814 | KCNH2 | n.1377_1389del c.544_556del (p.Ser182AlafsTer15) c.235-39_235-27del (n.235-39_235-27del) n.767_779del c.244_256del (p.Ser82AlafsTer15) c.394_406del (p.Ser132AlafsTer15) c.367_379del (p.Ser123AlafsTer15) | ClinVar dbSNP |
| 7 | g.150958422C>A | CA369863332 | KCNH2 | n.1386G>T c.553G>T (p.Ala185Ser) c.235-30G>T (n.235-30G>T) n.776G>T c.253G>T (p.Ala85Ser) c.403G>T (p.Ala135Ser) c.376G>T (p.Ala126Ser) | gnomAD v4 |
| 7 | g.150958422C>G | CA369863333 | KCNH2 | n.1386G>C c.553G>C (p.Ala185Pro) c.235-30G>C (n.235-30G>C) n.776G>C c.253G>C (p.Ala85Pro) c.403G>C (p.Ala135Pro) c.376G>C (p.Ala126Pro) | |
| 7 | g.150958422C>T | CA369863335 | KCNH2 | n.1386G>A c.553G>A (p.Ala185Thr) c.235-30G>A (n.235-30G>A) n.776G>A c.253G>A (p.Ala85Thr) c.403G>A (p.Ala135Thr) c.376G>A (p.Ala126Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958423G>A | CA458646795 | KCNH2 | n.1385C>T c.552C>T (p.Gly184=) c.235-31C>T (n.235-31C>T) n.775C>T c.252C>T (p.Gly84=) c.402C>T (p.Gly134=) c.375C>T (p.Gly125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958423G>C | CA458646797 | KCNH2 | n.1385C>G c.552C>G (p.Gly184=) c.235-31C>G (n.235-31C>G) n.775C>G c.252C>G (p.Gly84=) c.402C>G (p.Gly134=) c.375C>G (p.Gly125=) | gnomAD v4 |
| 7 | g.150958423G= | CA1752418673 | KCNH2 | n.1385C= c.552C= (p.Gly184=) c.235-31C= (n.235-31C=) n.775C= c.252C= (p.Gly84=) c.402C= (p.Gly134=) c.375C= (p.Gly125=) | |
| 7 | g.150958423G>T | CA458646798 | KCNH2 | n.1385C>A c.552C>A (p.Gly184=) c.235-31C>A (n.235-31C>A) n.775C>A c.252C>A (p.Gly84=) c.402C>A (p.Gly134=) c.375C>A (p.Gly125=) | gnomAD v4 |
| 7 | g.150958424C>A | CA369863337 | KCNH2 | n.1384G>T c.551G>T (p.Gly184Val) c.235-32G>T (n.235-32G>T) n.774G>T c.251G>T (p.Gly84Val) c.401G>T (p.Gly134Val) c.374G>T (p.Gly125Val) | gnomAD v4 |
| 7 | g.150958424C>G | CA369863340 | KCNH2 | n.1384G>C c.551G>C (p.Gly184Ala) c.235-32G>C (n.235-32G>C) n.774G>C c.251G>C (p.Gly84Ala) c.401G>C (p.Gly134Ala) c.374G>C (p.Gly125Ala) | |
| 7 | g.150958424C>T | CA369863339 | KCNH2 | n.1384G>A c.551G>A (p.Gly184Asp) c.235-32G>A (n.235-32G>A) n.774G>A c.251G>A (p.Gly84Asp) c.401G>A (p.Gly134Asp) c.374G>A (p.Gly125Asp) | gnomAD v4 |
| 7 | g.150958428_150958435dup | CA658797049 | KCNH2 | n.1377_1384dup c.544_551dup (p.Ala185ArgfsTer19) c.235-39_235-32dup (n.235-39_235-32dup) n.767_774dup c.244_251dup (p.Ala85ArgfsTer19) c.394_401dup (p.Ala135ArgfsTer19) c.367_374dup (p.Ala126ArgfsTer19) | ClinVar dbSNP |
| 7 | g.150958425C>A | CA369863342 | KCNH2 | n.1383G>T c.550G>T (p.Gly184Cys) c.235-33G>T (n.235-33G>T) n.773G>T c.250G>T (p.Gly84Cys) c.400G>T (p.Gly134Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
| 7 | g.150958425C= | CA1752418680 | KCNH2 | n.1383G= c.550G= (p.Gly184=) c.235-33G= (n.235-33G=) n.773G= c.250G= (p.Gly84=) c.400G= (p.Gly134=) c.373G= (p.Gly125=) | |
| 7 | g.150958425C>G | CA369863344 | KCNH2 | n.1383G>C c.550G>C (p.Gly184Arg) c.235-33G>C (n.235-33G>C) n.773G>C c.250G>C (p.Gly84Arg) c.400G>C (p.Gly134Arg) c.373G>C (p.Gly125Arg) | |
| 7 | g.150958425C>T | CA369863346 | KCNH2 | n.1383G>A c.550G>A (p.Gly184Ser) c.235-33G>A (n.235-33G>A) n.773G>A c.250G>A (p.Gly84Ser) c.400G>A (p.Gly134Ser) c.373G>A (p.Gly125Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150958426G>A | CA458646804 | KCNH2 | n.1382C>T c.549C>T (p.Gly183=) c.235-34C>T (n.235-34C>T) n.772C>T c.249C>T (p.Gly83=) c.399C>T (p.Gly133=) c.372C>T (p.Gly124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958426G>C | CA458646806 | KCNH2 | n.1382C>G c.549C>G (p.Gly183=) c.235-34C>G (n.235-34C>G) n.772C>G c.249C>G (p.Gly83=) c.399C>G (p.Gly133=) c.372C>G (p.Gly124=) | gnomAD v4 |
| 7 | g.150958426G= | CA1752418682 | KCNH2 | n.1382C= c.549C= (p.Gly183=) c.235-34C= (n.235-34C=) n.772C= c.249C= (p.Gly83=) c.399C= (p.Gly133=) c.372C= (p.Gly124=) | |
| 7 | g.150958426G>T | CA458646807 | KCNH2 | n.1382C>A c.549C>A (p.Gly183=) c.235-34C>A (n.235-34C>A) n.772C>A c.249C>A (p.Gly83=) c.399C>A (p.Gly133=) c.372C>A (p.Gly124=) | gnomAD v4 |
| 7 | g.150958427C>A | CA369863349 | KCNH2 | n.1381G>T c.548G>T (p.Gly183Val) c.235-35G>T (n.235-35G>T) n.771G>T c.248G>T (p.Gly83Val) c.398G>T (p.Gly133Val) c.371G>T (p.Gly124Val) | gnomAD v4 |
| 7 | g.150958427C>G | CA369863350 | KCNH2 | n.1381G>C c.548G>C (p.Gly183Ala) c.235-35G>C (n.235-35G>C) n.771G>C c.248G>C (p.Gly83Ala) c.398G>C (p.Gly133Ala) c.371G>C (p.Gly124Ala) | |
| 7 | g.150958427C>T | CA369863351 | KCNH2 | n.1381G>A c.548G>A (p.Gly183Asp) c.235-35G>A (n.235-35G>A) n.771G>A c.248G>A (p.Gly83Asp) c.398G>A (p.Gly133Asp) c.371G>A (p.Gly124Asp) | gnomAD v4 |
| 7 | g.150958429del | CA2685608949 | KCNH2 | n.1381del c.548del (p.Gly183AlafsTer18) c.235-35del (n.235-35del) n.771del c.248del (p.Gly83AlafsTer18) c.398del (p.Gly133AlafsTer18) c.371del (p.Gly124AlafsTer18) | gnomAD v4 |
| 7 | g.150958428C>A | CA369863354 | KCNH2 | n.1380G>T c.547G>T (p.Gly183Cys) c.235-36G>T (n.235-36G>T) n.770G>T c.247G>T (p.Gly83Cys) c.397G>T (p.Gly133Cys) c.370G>T (p.Gly124Cys) | gnomAD v4 |
| 7 | g.150958428C>G | CA369863355 | KCNH2 | n.1380G>C c.547G>C (p.Gly183Arg) c.235-36G>C (n.235-36G>C) n.770G>C c.247G>C (p.Gly83Arg) c.397G>C (p.Gly133Arg) c.370G>C (p.Gly124Arg) | |
| 7 | g.150958428C>T | CA369863357 | KCNH2 | n.1380G>A c.547G>A (p.Gly183Ser) c.235-36G>A (n.235-36G>A) n.770G>A c.247G>A (p.Gly83Ser) c.397G>A (p.Gly133Ser) c.370G>A (p.Gly124Ser) | gnomAD v4 |
| 7 | g.150958429C>A | CA458646811 | KCNH2 | n.1379G>T c.546G>T (p.Ser182=) c.235-37G>T (n.235-37G>T) n.769G>T c.246G>T (p.Ser82=) c.396G>T (p.Ser132=) c.369G>T (p.Ser123=) | ClinVar gnomAD v4 |
| 7 | g.150958429C= | CA1752418684 | KCNH2 | n.1379G= c.546G= (p.Ser182=) c.235-37G= (n.235-37G=) n.769G= c.246G= (p.Ser82=) c.396G= (p.Ser132=) c.369G= (p.Ser123=) | |
| 7 | g.150958429C>G | CA458646812 | KCNH2 | n.1379G>C c.546G>C (p.Ser182=) c.235-37G>C (n.235-37G>C) n.769G>C c.246G>C (p.Ser82=) c.396G>C (p.Ser132=) c.369G>C (p.Ser123=) | |
| 7 | g.150958429C>T | CA039963 | KCNH2 | n.1379G>A c.546G>A (p.Ser182=) c.235-37G>A (n.235-37G>A) n.769G>A c.246G>A (p.Ser82=) c.396G>A (p.Ser132=) c.369G>A (p.Ser123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958430G>A | CA369863361 | KCNH2 | n.1378C>T c.545C>T (p.Ser182Leu) c.235-38C>T (n.235-38C>T) n.768C>T c.245C>T (p.Ser82Leu) c.395C>T (p.Ser132Leu) c.368C>T (p.Ser123Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150958430G>C | CA16612317 | KCNH2 | n.1378C>G c.545C>G (p.Ser182Trp) c.235-38C>G (n.235-38C>G) n.768C>G c.245C>G (p.Ser82Trp) c.395C>G (p.Ser132Trp) c.368C>G (p.Ser123Trp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958430G= | CA1752418689 | KCNH2 | n.1378C= c.545C= (p.Ser182=) c.235-38C= (n.235-38C=) n.768C= c.245C= (p.Ser82=) c.395C= (p.Ser132=) c.368C= (p.Ser123=) | |
| 7 | g.150958430G>T | CA16042695 | KCNH2 | n.1378C>A c.545C>A (p.Ser182Ter) c.235-38C>A (n.235-38C>A) n.768C>A c.245C>A (p.Ser82Ter) c.395C>A (p.Ser132Ter) c.368C>A (p.Ser123Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958431A>C | CA369863368 | KCNH2 | n.1377T>G c.544T>G (p.Ser182Ala) c.235-39T>G (n.235-39T>G) n.767T>G c.244T>G (p.Ser82Ala) c.394T>G (p.Ser132Ala) c.367T>G (p.Ser123Ala) | |
| 7 | g.150958431A>G | CA369863364 | KCNH2 | n.1377T>C c.544T>C (p.Ser182Pro) c.235-39T>C (n.235-39T>C) n.767T>C c.244T>C (p.Ser82Pro) c.394T>C (p.Ser132Pro) c.367T>C (p.Ser123Pro) | |
| 7 | g.150958431A>T | CA369863365 | KCNH2 | n.1377T>A c.544T>A (p.Ser182Thr) c.235-39T>A (n.235-39T>A) n.767T>A c.244T>A (p.Ser82Thr) c.394T>A (p.Ser132Thr) c.367T>A (p.Ser123Thr) | |
| 7 | g.150958431_150958438dup | CA658797050 | KCNH2 | n.1370_1377dup c.537_544dup (p.Ser182TrpfsTer22) c.235-46_235-39dup (n.235-46_235-39dup) n.760_767dup c.237_244dup (p.Ser82TrpfsTer22) c.387_394dup (p.Ser132TrpfsTer22) c.360_367dup (p.Ser123TrpfsTer22) | ClinVar dbSNP |
| 7 | g.150958432C>A | CA458646813 | KCNH2 | n.1376G>T c.543G>T (p.Arg181=) c.235-40G>T (n.235-40G>T) n.766G>T c.243G>T (p.Arg81=) c.393G>T (p.Arg131=) c.366G>T (p.Arg122=) | gnomAD v4 |