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 |
|---|---|---|---|---|---|
| 4 | g.70642486C>A | CA357139402 | ENAM | c.1060C>A (p.Gln354Lys) n.99+4643C>A c.406C>A (p.Gln136Lys) | |
| 4 | g.70642486C= | CA1466850950 | ENAM | c.1060C= (p.Gln354=) n.99+4643C= c.406C= (p.Gln136=) | |
| 4 | g.70642486C>G | CA357139403 | ENAM | c.1060C>G (p.Gln354Glu) n.99+4643C>G c.406C>G (p.Gln136Glu) | dbSNP gnomAD v4 |
| 4 | g.70642486C>T | CA357139404 | ENAM | c.1060C>T (p.Gln354Ter) n.99+4643C>T c.406C>T (p.Gln136Ter) | |
| 4 | g.70642487A>C | CA357139405 | ENAM | c.1061A>C (p.Gln354Pro) n.99+4644A>C c.407A>C (p.Gln136Pro) | |
| 4 | g.70642487A>G | CA357139406 | ENAM | c.1061A>G (p.Gln354Arg) n.99+4644A>G c.407A>G (p.Gln136Arg) | |
| 4 | g.70642487A>T | CA357139407 | ENAM | c.1061A>T (p.Gln354Leu) n.99+4644A>T c.407A>T (p.Gln136Leu) | |
| 4 | g.70642488A= | CA1466850956 | ENAM | c.1062A= (p.Gln354=) n.99+4645A= c.408A= (p.Gln136=) | |
| 4 | g.70642488A>C | CA357139408 | ENAM | c.1062A>C (p.Gln354His) n.99+4645A>C c.408A>C (p.Gln136His) | |
| 4 | g.70642488A>G | CA2952060 | ENAM | c.1062A>G (p.Gln354=) n.99+4645A>G c.408A>G (p.Gln136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.70642488A>T | CA357139409 | ENAM | c.1062A>T (p.Gln354His) n.99+4645A>T c.408A>T (p.Gln136His) | |
| 4 | g.70642489G>A | CA2952061 | ENAM | c.1063G>A (p.Val355Ile) n.99+4646G>A c.409G>A (p.Val137Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.70642489G>C | CA357139410 | ENAM | c.1063G>C (p.Val355Leu) n.99+4646G>C c.409G>C (p.Val137Leu) | |
| 4 | g.70642489G= | CA1466850963 | ENAM | c.1063G= (p.Val355=) n.99+4646G= c.409G= (p.Val137=) | |
| 4 | g.70642489G>T | CA357139411 | ENAM | c.1063G>T (p.Val355Phe) n.99+4646G>T c.409G>T (p.Val137Phe) | |
| 4 | g.70642490T>A | CA357139413 | ENAM | c.1064T>A (p.Val355Asp) n.99+4647T>A c.410T>A (p.Val137Asp) | |
| 4 | g.70642490T>C | CA357139414 | ENAM | c.1064T>C (p.Val355Ala) n.99+4647T>C c.410T>C (p.Val137Ala) | |
| 4 | g.70642490T>G | CA357139412 | ENAM | c.1064T>G (p.Val355Gly) n.99+4647T>G c.410T>G (p.Val137Gly) | |
| 4 | g.70642491T>A | CA439943953 | ENAM | c.1065T>A (p.Val355=) n.99+4648T>A c.411T>A (p.Val137=) | |
| 4 | g.70642491T>C | CA439943954 | ENAM | c.1065T>C (p.Val355=) n.99+4648T>C c.411T>C (p.Val137=) | |
| 4 | g.70642491T>G | CA439943955 | ENAM | c.1065T>G (p.Val355=) n.99+4648T>G c.411T>G (p.Val137=) | |
| 4 | g.70642492C>A | CA357139415 | ENAM | c.1066C>A (p.Gln356Lys) n.99+4649C>A c.412C>A (p.Gln138Lys) | |
| 4 | g.70642492C>G | CA357139416 | ENAM | c.1066C>G (p.Gln356Glu) n.99+4649C>G c.412C>G (p.Gln138Glu) | |
| 4 | g.70642492C>T | CA357139417 | ENAM | c.1066C>T (p.Gln356Ter) n.99+4649C>T c.412C>T (p.Gln138Ter) | gnomAD v4 COSMIC |
| 4 | g.70642493A= | CA1466850970 | ENAM | c.1067A= (p.Gln356=) n.99+4650A= c.413A= (p.Gln138=) | |
| 4 | g.70642493A>C | CA357139418 | ENAM | c.1067A>C (p.Gln356Pro) n.99+4650A>C c.413A>C (p.Gln138Pro) | |
| 4 | g.70642493A>G | CA357139419 | ENAM | c.1067A>G (p.Gln356Arg) n.99+4650A>G c.413A>G (p.Gln138Arg) | dbSNP |
| 4 | g.70642493A>T | CA357139420 | ENAM | c.1067A>T (p.Gln356Leu) n.99+4650A>T c.413A>T (p.Gln138Leu) | |
| 4 | g.70642494A= | CA1466850974 | ENAM | c.1068A= (p.Gln356=) n.99+4651A= c.414A= (p.Gln138=) | |
| 4 | g.70642494A>C | CA357139421 | ENAM | c.1068A>C (p.Gln356His) n.99+4651A>C c.414A>C (p.Gln138His) | |
| 4 | g.70642494A>G | CA2952062 | ENAM | c.1068A>G (p.Gln356=) n.99+4651A>G c.414A>G (p.Gln138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.70642494A>T | CA357139422 | ENAM | c.1068A>T (p.Gln356His) n.99+4651A>T c.414A>T (p.Gln138His) | |
| 4 | g.70642495A>C | CA439943972 | ENAM | c.1069A>C (p.Arg357=) n.99+4652A>C c.415A>C (p.Arg139=) | |
| 4 | g.70642495A>G | CA357139423 | ENAM | c.1069A>G (p.Arg357Gly) n.99+4652A>G c.415A>G (p.Arg139Gly) | |
| 4 | g.70642495A>T | CA357139424 | ENAM | c.1069A>T (p.Arg357Trp) n.99+4652A>T c.415A>T (p.Arg139Trp) | |
| 4 | g.70642496G>A | CA357139425 | ENAM | c.1070G>A (p.Arg357Lys) n.99+4653G>A c.416G>A (p.Arg139Lys) | |
| 4 | g.70642496G>C | CA357139426 | ENAM | c.1070G>C (p.Arg357Thr) n.99+4653G>C c.416G>C (p.Arg139Thr) | |
| 4 | g.70642496G= | CA1466850977 | ENAM | c.1070G= (p.Arg357=) n.99+4653G= c.416G= (p.Arg139=) | |
| 4 | g.70642496G>T | CA357139427 | ENAM | c.1070G>T (p.Arg357Met) n.99+4653G>T c.416G>T (p.Arg139Met) | dbSNP |
| 4 | g.70642496_70642497delinsAA | CA645532480 | ENAM | c.1070_1071delinsAA (p.Arg357Lys) n.99+4653_99+4654delinsAA c.416_417delinsAA (p.Arg139Lys) | COSMIC |
| 4 | g.70642497G>A | CA439943981 | ENAM | c.1071G>A (p.Arg357=) n.99+4654G>A c.417G>A (p.Arg139=) | |
| 4 | g.70642497G>C | CA357139429 | ENAM | c.1071G>C (p.Arg357Ser) n.99+4654G>C c.417G>C (p.Arg139Ser) | |
| 4 | g.70642497G>T | CA357139428 | ENAM | c.1071G>T (p.Arg357Ser) n.99+4654G>T c.417G>T (p.Arg139Ser) | |
| 4 | g.70642498G>A | CA2952064 | ENAM | c.1072G>A (p.Gly358Ser) n.99+4655G>A c.418G>A (p.Gly140Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.70642498G>C | CA357139430 | ENAM | c.1072G>C (p.Gly358Arg) n.99+4655G>C c.418G>C (p.Gly140Arg) | |
| 4 | g.70642498G= | CA1466850981 | ENAM | c.1072G= (p.Gly358=) n.99+4655G= c.418G= (p.Gly140=) | |
| 4 | g.70642498G>T | CA2952063 | ENAM | c.1072G>T (p.Gly358Cys) n.99+4655G>T c.418G>T (p.Gly140Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.70642499G>A | CA357139431 | ENAM | c.1073G>A (p.Gly358Asp) n.99+4656G>A c.419G>A (p.Gly140Asp) | |
| 4 | g.70642499G>C | CA357139432 | ENAM | c.1073G>C (p.Gly358Ala) n.99+4656G>C c.419G>C (p.Gly140Ala) | |
| 4 | g.70642499G>T | CA357139433 | ENAM | c.1073G>T (p.Gly358Val) n.99+4656G>T c.419G>T (p.Gly140Val) |