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.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) | |
| 4 | g.70642500T>A | CA439943987 | ENAM | c.1074T>A (p.Gly358=) n.99+4657T>A c.420T>A (p.Gly140=) | |
| 4 | g.70642500T>C | CA439943990 | ENAM | c.1074T>C (p.Gly358=) n.99+4657T>C c.420T>C (p.Gly140=) | |
| 4 | g.70642500T>G | CA439943989 | ENAM | c.1074T>G (p.Gly358=) n.99+4657T>G c.420T>G (p.Gly140=) | |
| 4 | g.70642501C>A | CA357139436 | ENAM | c.1075C>A (p.Pro359Thr) n.99+4658C>A c.421C>A (p.Pro141Thr) | |
| 4 | g.70642501C>G | CA357139434 | ENAM | c.1075C>G (p.Pro359Ala) n.99+4658C>G c.421C>G (p.Pro141Ala) | |
| 4 | g.70642501C>T | CA357139435 | ENAM | c.1075C>T (p.Pro359Ser) n.99+4658C>T c.421C>T (p.Pro141Ser) | |
| 4 | g.70642502C>A | CA357139437 | ENAM | c.1076C>A (p.Pro359His) n.99+4659C>A c.422C>A (p.Pro141His) | |
| 4 | g.70642502C= | CA1466850989 | ENAM | c.1076C= (p.Pro359=) n.99+4659C= c.422C= (p.Pro141=) | |
| 4 | g.70642502C>G | CA357139438 | ENAM | c.1076C>G (p.Pro359Arg) n.99+4659C>G c.422C>G (p.Pro141Arg) | |
| 4 | g.70642502C>T | CA357139439 | ENAM | c.1076C>T (p.Pro359Leu) n.99+4659C>T c.422C>T (p.Pro141Leu) | dbSNP |
| 4 | g.70642504_70642513del | CA2670908141 | ENAM | c.1078_1087del (p.Arg360SerfsTer9) n.99+4661_99+4670del c.424_433del (p.Arg142SerfsTer9) | gnomAD v4 |
| 4 | g.70642503T>A | CA439943997 | ENAM | c.1077T>A (p.Pro359=) n.99+4660T>A c.423T>A (p.Pro141=) | gnomAD v4 |
| 4 | g.70642503T>C | CA439943998 | ENAM | c.1077T>C (p.Pro359=) n.99+4660T>C c.423T>C (p.Pro141=) | |
| 4 | g.70642503T>G | CA439943999 | ENAM | c.1077T>G (p.Pro359=) n.99+4660T>G c.423T>G (p.Pro141=) | |
| 4 | g.70642504C>A | CA439944000 | ENAM | c.1078C>A (p.Arg360=) n.99+4661C>A c.424C>A (p.Arg142=) | |
| 4 | g.70642504C= | CA1466850993 | ENAM | c.1078C= (p.Arg360=) n.99+4661C= c.424C= (p.Arg142=) | |
| 4 | g.70642504C>G | CA357139440 | ENAM | c.1078C>G (p.Arg360Gly) n.99+4661C>G c.424C>G (p.Arg142Gly) | |
| 4 | g.70642504C>T | CA99035453 | ENAM | c.1078C>T (p.Arg360Trp) n.99+4661C>T c.424C>T (p.Arg142Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |