UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387727dup | CA658797595 | KCNJ11 | c.140dup (p.Ser48LeufsTer3) c.107dup (p.Ser37LeufsTer3) c.368dup (p.Ser124LeufsTer3) c.385dup n.526dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387725_17387729delinsAAAGG | CA1955119366 | KCNJ11 | c.135_139delinsCCTTT (p.Phe45=) c.102_106delinsCCTTT (p.Phe34=) c.363_367delinsCCTTT (p.Phe121=) c.380_384delinsCCTTT n.521_525delinsCCTTT | |
| 11 | g.17387727_17387731del | CA912971884 | KCNJ11 | c.135_139del (p.Phe47HisfsTer2) c.102_106del (p.Phe36HisfsTer2) c.363_367del (p.Phe123HisfsTer2) c.380_384del n.521_525del | |
| 11 | g.17387726_17387751del | CA2695213246 | KCNJ11 | c.114_139del (p.His39LeufsTer3) c.81_106del (p.His28LeufsTer3) c.342_367del (p.His115LeufsTer3) c.359_384del n.500_525del | |
| 11 | g.17387726A>C | CA473515627 | KCNJ11 | c.138T>G (p.Leu46=) c.105T>G (p.Leu35=) c.366T>G (p.Leu122=) c.383T>G n.524T>G | |
| 11 | g.17387726A>G | CA473515628 | KCNJ11 | c.138T>C (p.Leu46=) c.105T>C (p.Leu35=) c.366T>C (p.Leu122=) c.383T>C n.524T>C | gnomAD v4 |
| 11 | g.17387726A>T | CA473515629 | KCNJ11 | c.138T>A (p.Leu46=) c.105T>A (p.Leu35=) c.366T>A (p.Leu122=) c.383T>A n.524T>A | |
| 11 | g.17387730_17387733del | CA658822455 | KCNJ11 | c.135_138del (p.Leu46SerfsTer7) c.102_105del (p.Leu35SerfsTer7) c.363_366del (p.Leu122SerfsTer7) c.380_383del n.521_524del | ClinVar dbSNP |
| 11 | g.17387727A= | CA1955119367 | KCNJ11 | c.137T= (p.Leu46=) c.104T= (p.Leu35=) c.365T= (p.Leu122=) c.382T= n.523T= | |
| 11 | g.17387727A>C | CA379774148 | KCNJ11 | c.137T>G (p.Leu46Arg) c.104T>G (p.Leu35Arg) c.365T>G (p.Leu122Arg) c.382T>G n.523T>G | COSMIC |
| 11 | g.17387727A>G | CA379774149 | KCNJ11 | c.137T>C (p.Leu46Pro) c.104T>C (p.Leu35Pro) c.365T>C (p.Leu122Pro) c.382T>C n.523T>C | ClinVar dbSNP |
| 11 | g.17387727A>T | CA379774151 | KCNJ11 | c.137T>A (p.Leu46His) c.104T>A (p.Leu35His) c.365T>A (p.Leu122His) c.382T>A n.523T>A | |
| 11 | g.17387728G>A | CA379774157 | KCNJ11 | c.136C>T (p.Leu46Phe) c.103C>T (p.Leu35Phe) c.364C>T (p.Leu122Phe) c.381C>T n.522C>T | gnomAD v4 COSMIC |
| 11 | g.17387728G>C | CA379774155 | KCNJ11 | c.136C>G (p.Leu46Val) c.103C>G (p.Leu35Val) c.364C>G (p.Leu122Val) c.381C>G n.522C>G | |
| 11 | g.17387728G>T | CA379774153 | KCNJ11 | c.136C>A (p.Leu46Ile) c.103C>A (p.Leu35Ile) c.364C>A (p.Leu122Ile) c.381C>A n.522C>A | |
| 11 | g.17387729G>A | CA473515631 | KCNJ11 | c.135C>T (p.Phe45=) c.102C>T (p.Phe34=) c.363C>T (p.Phe121=) c.380C>T n.521C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387729G>C | CA379774158 | KCNJ11 | c.135C>G (p.Phe45Leu) c.102C>G (p.Phe34Leu) c.363C>G (p.Phe121Leu) c.380C>G n.521C>G | |
| 11 | g.17387729G= | CA1955119368 | KCNJ11 | c.135C= (p.Phe45=) c.102C= (p.Phe34=) c.363C= (p.Phe121=) c.380C= n.521C= | |
| 11 | g.17387729G>T | CA379774159 | KCNJ11 | c.135C>A (p.Phe45Leu) c.102C>A (p.Phe34Leu) c.363C>A (p.Phe121Leu) c.380C>A n.521C>A | |
| 11 | g.17387730A>C | CA379774160 | KCNJ11 | c.134T>G (p.Phe45Cys) c.101T>G (p.Phe34Cys) c.362T>G (p.Phe121Cys) c.379T>G n.520T>G | |
| 11 | g.17387730A>G | CA379774165 | KCNJ11 | c.134T>C (p.Phe45Ser) c.101T>C (p.Phe34Ser) c.362T>C (p.Phe121Ser) c.379T>C n.520T>C | |
| 11 | g.17387730A>T | CA379774162 | KCNJ11 | c.134T>A (p.Phe45Tyr) c.101T>A (p.Phe34Tyr) c.362T>A (p.Phe121Tyr) c.379T>A n.520T>A | |
| 11 | g.17387731A>C | CA379774169 | KCNJ11 | c.133T>G (p.Phe45Val) c.100T>G (p.Phe34Val) c.361T>G (p.Phe121Val) c.378T>G n.519T>G | |
| 11 | g.17387731A>G | CA379774171 | KCNJ11 | c.133T>C (p.Phe45Leu) c.100T>C (p.Phe34Leu) c.361T>C (p.Phe121Leu) c.378T>C n.519T>C | |
| 11 | g.17387731A>T | CA379774174 | KCNJ11 | c.133T>A (p.Phe45Ile) c.100T>A (p.Phe34Ile) c.361T>A (p.Phe121Ile) c.378T>A n.519T>A | |
| 11 | g.17387732G>A | CA473515634 | KCNJ11 | c.132C>T (p.Ala44=) c.99C>T (p.Ala33=) c.360C>T (p.Ala120=) c.377C>T n.518C>T | |
| 11 | g.17387732G>C | CA473515635 | KCNJ11 | c.132C>G (p.Ala44=) c.99C>G (p.Ala33=) c.360C>G (p.Ala120=) c.377C>G n.518C>G | |
| 11 | g.17387732G>T | CA473515636 | KCNJ11 | c.132C>A (p.Ala44=) c.99C>A (p.Ala33=) c.360C>A (p.Ala120=) c.377C>A n.518C>A | |
| 11 | g.17387733G>A | CA379774177 | KCNJ11 | c.131C>T (p.Ala44Val) c.98C>T (p.Ala33Val) c.359C>T (p.Ala120Val) c.376C>T n.517C>T | |
| 11 | g.17387733G>C | CA379774179 | KCNJ11 | c.131C>G (p.Ala44Gly) c.98C>G (p.Ala33Gly) c.359C>G (p.Ala120Gly) c.376C>G n.517C>G | |
| 11 | g.17387733G>T | CA379774182 | KCNJ11 | c.131C>A (p.Ala44Asp) c.98C>A (p.Ala33Asp) c.359C>A (p.Ala120Asp) c.376C>A n.517C>A | |
| 11 | g.17387733_17387734delinsGC | CA1955119369 | KCNJ11 | c.130_131delinsGC (p.Ala44=) c.97_98delinsGC (p.Ala33=) c.358_359delinsGC (p.Ala120=) c.375_376delinsGC n.516_517delinsGC | |
| 11 | g.17387734del | CA597904312 | KCNJ11 | c.130del (p.Ala44ProfsTer10) c.97del (p.Ala33ProfsTer10) c.358del (p.Ala120ProfsTer10) c.375del n.516del | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387734C>A | CA379774186 | KCNJ11 | c.130G>T (p.Ala44Ser) c.97G>T (p.Ala33Ser) c.358G>T (p.Ala120Ser) c.375G>T n.516G>T | |
| 11 | g.17387734C= | CA1955119370 | KCNJ11 | c.130G= (p.Ala44=) c.97G= (p.Ala33=) c.358G= (p.Ala120=) c.375G= n.516G= | |
| 11 | g.17387734C>G | CA379774189 | KCNJ11 | c.130G>C (p.Ala44Pro) c.97G>C (p.Ala33Pro) c.358G>C (p.Ala120Pro) c.375G>C n.516G>C | |
| 11 | g.17387734C>T | CA379774191 | KCNJ11 | c.130G>A (p.Ala44Thr) c.97G>A (p.Ala33Thr) c.358G>A (p.Ala120Thr) c.375G>A n.516G>A | dbSNP |
| 11 | g.17387735A= | CA1955119371 | KCNJ11 | c.129T= (p.Ser43=) c.96T= (p.Ser32=) c.357T= (p.Ser119=) c.374T= n.515T= | |
| 11 | g.17387735A>C | CA473515637 | KCNJ11 | c.129T>G (p.Ser43=) c.96T>G (p.Ser32=) c.357T>G (p.Ser119=) c.374T>G n.515T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387735A>G | CA473515638 | KCNJ11 | c.129T>C (p.Ser43=) c.96T>C (p.Ser32=) c.357T>C (p.Ser119=) c.374T>C n.515T>C | |
| 11 | g.17387735A>T | CA473515640 | KCNJ11 | c.129T>A (p.Ser43=) c.96T>A (p.Ser32=) c.357T>A (p.Ser119=) c.374T>A n.515T>A | |
| 11 | g.17387736G>A | CA379774195 | KCNJ11 | c.128C>T (p.Ser43Phe) c.95C>T (p.Ser32Phe) c.356C>T (p.Ser119Phe) c.373C>T n.514C>T | |
| 11 | g.17387736G>C | CA379774199 | KCNJ11 | c.128C>G (p.Ser43Cys) c.95C>G (p.Ser32Cys) c.356C>G (p.Ser119Cys) c.373C>G n.514C>G | |
| 11 | g.17387736G>T | CA379774212 | KCNJ11 | c.128C>A (p.Ser43Tyr) c.95C>A (p.Ser32Tyr) c.356C>A (p.Ser119Tyr) c.373C>A n.514C>A | |
| 11 | g.17387736dup | CA2695213247 | KCNJ11 | c.128dup (p.Ala44CysfsTer7) c.95dup (p.Ala33CysfsTer7) c.356dup (p.Ala120CysfsTer7) c.373dup n.514dup | |
| 11 | g.17387737A= | CA1955119372 | KCNJ11 | c.127T= (p.Ser43=) c.94T= (p.Ser32=) c.355T= (p.Ser119=) c.372T= n.513T= | |
| 11 | g.17387737A>C | CA5902296 | KCNJ11 | c.127T>G (p.Ser43Ala) c.94T>G (p.Ser32Ala) c.355T>G (p.Ser119Ala) c.372T>G n.513T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387737A>G | CA379774215 | KCNJ11 | c.127T>C (p.Ser43Pro) c.94T>C (p.Ser32Pro) c.355T>C (p.Ser119Pro) c.372T>C n.513T>C | |
| 11 | g.17387737A>T | CA379774217 | KCNJ11 | c.127T>A (p.Ser43Thr) c.94T>A (p.Ser32Thr) c.355T>A (p.Ser119Thr) c.372T>A n.513T>A | |
| 11 | g.17387738C>A | CA473515644 | KCNJ11 | c.126G>T (p.Ser42=) c.93G>T (p.Ser31=) c.354G>T (p.Ser118=) c.371G>T n.512G>T |