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 |
|---|---|---|---|---|---|
| 15 | g.66435063_66435064delinsGC | CA2184071716 | MAP2K1 | c.51_52delinsGC (p.Glu17=) c.117_118delinsGC (p.Glu39=) n.553_554delinsGC n.628_629delinsGC | |
| 15 | g.66435064del | CA7623874 | MAP2K1 | c.52del (p.Leu18Ter) c.118del (p.Leu40Ter) n.554del n.629del | dbSNP ExAC gnomAD v2 |
| 15 | g.66435064C>A | CA392929017 | MAP2K1 | c.52C>A (p.Leu18Ile) c.118C>A (p.Leu40Ile) n.554C>A n.629C>A | dbSNP |
| 15 | g.66435064C= | CA2184071717 | MAP2K1 | c.52C= (p.Leu18=) c.118C= (p.Leu40=) n.554C= n.629C= | |
| 15 | g.66435064C>G | CA392929019 | MAP2K1 | c.52C>G (p.Leu18Val) c.118C>G (p.Leu40Val) n.554C>G n.629C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.66435064C>T | CA490855903 | MAP2K1 | c.52C>T (p.Leu18=) c.118C>T (p.Leu40=) n.554C>T n.629C>T | gnomAD v4 |
| 15 | g.66435064dup | CA2629081329 | MAP2K1 | c.52dup (p.Leu18ProfsTer4) c.118dup (p.Leu40ProfsTer4) n.554dup n.629dup | gnomAD v4 |
| 15 | g.66435065T>A | CA392929021 | MAP2K1 | c.53T>A (p.Leu18Gln) c.119T>A (p.Leu40Gln) n.555T>A n.630T>A | |
| 15 | g.66435065T>C | CA392929023 | MAP2K1 | c.53T>C (p.Leu18Pro) c.119T>C (p.Leu40Pro) n.555T>C n.630T>C | dbSNP |
| 15 | g.66435065T>G | CA392929025 | MAP2K1 | c.53T>G (p.Leu18Arg) c.119T>G (p.Leu40Arg) n.555T>G n.630T>G | |
| 15 | g.66435066A>C | CA490855905 | MAP2K1 | c.54A>C (p.Leu18=) c.120A>C (p.Leu40=) n.556A>C n.631A>C | |
| 15 | g.66435066A>G | CA490855904 | MAP2K1 | c.54A>G (p.Leu18=) c.120A>G (p.Leu40=) n.556A>G n.631A>G | dbSNP |
| 15 | g.66435066A>T | CA490855906 | MAP2K1 | c.54A>T (p.Leu18=) c.120A>T (p.Leu40=) n.556A>T n.631A>T | dbSNP |
| 15 | g.66435067G>A | CA392929031 | MAP2K1 | c.55G>A (p.Glu19Lys) c.121G>A (p.Glu41Lys) n.557G>A n.632G>A | dbSNP |
| 15 | g.66435067G>C | CA392929029 | MAP2K1 | c.55G>C (p.Glu19Gln) c.121G>C (p.Glu41Gln) n.557G>C n.632G>C | dbSNP |
| 15 | g.66435067G>T | CA392929027 | MAP2K1 | c.55G>T (p.Glu19Ter) c.121G>T (p.Glu41Ter) n.557G>T n.632G>T | |
| 15 | g.66435068A>C | CA392929034 | MAP2K1 | c.56A>C (p.Glu19Ala) c.122A>C (p.Glu41Ala) n.558A>C n.633A>C | |
| 15 | g.66435068A>G | CA392929035 | MAP2K1 | c.56A>G (p.Glu19Gly) c.122A>G (p.Glu41Gly) n.558A>G n.633A>G | dbSNP |
| 15 | g.66435068A>T | CA392929036 | MAP2K1 | c.56A>T (p.Glu19Val) c.122A>T (p.Glu41Val) n.558A>T n.633A>T | dbSNP |
| 15 | g.66435071_66435118del | CA645570529 | MAP2K1 | c.59_106del (p.Leu20_Lys35del) c.125_172del (p.Leu42_Lys57del) n.561_608del n.636_683del | COSMIC |
| 15 | g.66435069G>A | CA490855907 | MAP2K1 | c.57G>A (p.Glu19=) c.123G>A (p.Glu41=) n.559G>A n.634G>A | dbSNP |
| 15 | g.66435069G>C | CA392929038 | MAP2K1 | c.57G>C (p.Glu19Asp) c.123G>C (p.Glu41Asp) n.559G>C n.634G>C | dbSNP gnomAD v4 |
| 15 | g.66435069G= | CA2184071718 | MAP2K1 | c.57G= (p.Glu19=) c.123G= (p.Glu41=) n.559G= n.634G= | |
| 15 | g.66435069G>T | CA392929040 | MAP2K1 | c.57G>T (p.Glu19Asp) c.123G>T (p.Glu41Asp) n.559G>T n.634G>T | dbSNP |
| 15 | g.66435070C>A | CA392929042 | MAP2K1 | c.58C>A (p.Leu20Ile) c.124C>A (p.Leu42Ile) n.560C>A n.635C>A | |
| 15 | g.66435070C= | CA2184071719 | MAP2K1 | c.58C= (p.Leu20=) c.124C= (p.Leu42=) n.560C= n.635C= | |
| 15 | g.66435070C>G | CA392929043 | MAP2K1 | c.58C>G (p.Leu20Val) c.124C>G (p.Leu42Val) n.560C>G n.635C>G | dbSNP |
| 15 | g.66435070C>T | CA279993 | MAP2K1 | c.58C>T (p.Leu20Phe) c.124C>T (p.Leu42Phe) n.560C>T n.635C>T | ClinVar dbSNP COSMIC |
| 15 | g.66435071T>A | CA392929046 | MAP2K1 | c.59T>A (p.Leu20His) c.125T>A (p.Leu42His) n.561T>A n.636T>A | COSMIC |
| 15 | g.66435071T>C | CA392929048 | MAP2K1 | c.59T>C (p.Leu20Pro) c.125T>C (p.Leu42Pro) n.561T>C n.636T>C | |
| 15 | g.66435071T>G | CA392929050 | MAP2K1 | c.59T>G (p.Leu20Arg) c.125T>G (p.Leu42Arg) n.561T>G n.636T>G | ClinVar dbSNP |
| 15 | g.66435071T= | CA2184071721 | MAP2K1 | c.59T= (p.Leu20=) c.125T= (p.Leu42=) n.561T= n.636T= | |
| 15 | g.66435072dup | CA2731112622 | MAP2K1 | c.60dup (p.Asp21Ter) c.126dup (p.Asp43Ter) n.562dup n.637dup | dbSNP |
| 15 | g.66435071_66435074delinsTTGA | CA2184071720 | MAP2K1 | c.59_62delinsTTGA (p.Leu20=) c.125_128delinsTTGA (p.Leu42=) n.561_564delinsTTGA n.636_639delinsTTGA | |
| 15 | g.66435072T>A | CA490855909 | MAP2K1 | c.60T>A (p.Leu20=) c.126T>A (p.Leu42=) n.562T>A n.637T>A | dbSNP |
| 15 | g.66435072T>C | CA7623875 | MAP2K1 | c.60T>C (p.Leu20=) c.126T>C (p.Leu42=) n.562T>C n.637T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.66435072T>G | CA490855908 | MAP2K1 | c.60T>G (p.Leu20=) c.126T>G (p.Leu42=) n.562T>G n.637T>G | dbSNP |
| 15 | g.66435072T= | CA2184071722 | MAP2K1 | c.60T= (p.Leu20=) c.126T= (p.Leu42=) n.562T= n.637T= | |
| 15 | g.66435075_66435077del | CA658656490 | MAP2K1 | c.63_65del (p.Asp21del) c.129_131del (p.Asp43del) n.565_567del n.640_642del | ClinVar dbSNP |
| 15 | g.66435073G>A | CA392929056 | MAP2K1 | c.61G>A (p.Asp21Asn) c.127G>A (p.Asp43Asn) n.563G>A n.638G>A | dbSNP |
| 15 | g.66435073G>C | CA392929054 | MAP2K1 | c.61G>C (p.Asp21His) c.127G>C (p.Asp43His) n.563G>C n.638G>C | dbSNP |
| 15 | g.66435073G>T | CA392929053 | MAP2K1 | c.61G>T (p.Asp21Tyr) c.127G>T (p.Asp43Tyr) n.563G>T n.638G>T | dbSNP |
| 15 | g.66435074A>C | CA392929058 | MAP2K1 | c.62A>C (p.Asp21Ala) c.128A>C (p.Asp43Ala) n.564A>C n.639A>C | |
| 15 | g.66435074A>G | CA392929060 | MAP2K1 | c.62A>G (p.Asp21Gly) c.128A>G (p.Asp43Gly) n.564A>G n.639A>G | dbSNP |
| 15 | g.66435074A>T | CA392929062 | MAP2K1 | c.62A>T (p.Asp21Val) c.128A>T (p.Asp43Val) n.564A>T n.639A>T | dbSNP |
| 15 | g.66435075T>A | CA392929064 | MAP2K1 | c.63T>A (p.Asp21Glu) c.129T>A (p.Asp43Glu) n.565T>A n.640T>A | |
| 15 | g.66435075T>C | CA490855910 | MAP2K1 | c.63T>C (p.Asp21=) c.129T>C (p.Asp43=) n.565T>C n.640T>C | |
| 15 | g.66435075T>G | CA392929065 | MAP2K1 | c.63T>G (p.Asp21Glu) c.129T>G (p.Asp43Glu) n.565T>G n.640T>G | |
| 15 | g.66435076_66435108del | CA2573151054 | MAP2K1 | c.64_96del (p.Glu22_Leu32del) c.130_162del (p.Glu44_Leu54del) n.566_598del n.641_673del | ClinVar dbSNP |
| 15 | g.66435076G>A | CA392929068 | MAP2K1 | c.64G>A (p.Glu22Lys) c.130G>A (p.Glu44Lys) n.566G>A n.641G>A | dbSNP |