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 |
|---|---|---|---|---|---|
| 7 | g.44153302T>A | CA454610445 | GCK | c.*205A>T (n.*205A>T) c.207A>T (p.Ser69=) n.693A>T c.210A>T (p.Ser70=) c.204A>T (p.Ser68=) | |
| 7 | g.44153302T>C | CA4239705 | GCK | c.*205A>G (n.*205A>G) c.207A>G (p.Ser69=) n.693A>G c.210A>G (p.Ser70=) c.204A>G (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153302T>G | CA454610446 | GCK | c.*205A>C (n.*205A>C) c.207A>C (p.Ser69=) n.693A>C c.210A>C (p.Ser70=) c.204A>C (p.Ser68=) | |
| 7 | g.44153302T= | CA1703637510 | GCK | c.*205A= (n.*205A=) c.207A= (p.Ser69=) n.693A= c.210A= (p.Ser70=) c.204A= (p.Ser68=) | |
| 7 | g.44153303G>A | CA367403205 | GCK | c.*204C>T (n.*204C>T) c.206C>T (p.Ser69Leu) n.692C>T c.209C>T (p.Ser70Leu) c.203C>T (p.Ser68Leu) | |
| 7 | g.44153303G>C | CA367403207 | GCK | c.*204C>G (n.*204C>G) c.206C>G (p.Ser69Ter) n.692C>G c.209C>G (p.Ser70Ter) c.203C>G (p.Ser68Ter) | |
| 7 | g.44153303G>T | CA367403209 | GCK | c.*204C>A (n.*204C>A) c.206C>A (p.Ser69Ter) n.692C>A c.209C>A (p.Ser70Ter) c.203C>A (p.Ser68Ter) | |
| 7 | g.44153304A>C | CA367403215 | GCK | c.*203T>G (n.*203T>G) c.205T>G (p.Ser69Ala) n.691T>G c.208T>G (p.Ser70Ala) c.202T>G (p.Ser68Ala) | |
| 7 | g.44153304A>G | CA367403213 | GCK | c.*203T>C (n.*203T>C) c.205T>C (p.Ser69Pro) n.691T>C c.208T>C (p.Ser70Pro) c.202T>C (p.Ser68Pro) | |
| 7 | g.44153304A>T | CA367403211 | GCK | c.*203T>A (n.*203T>A) c.205T>A (p.Ser69Thr) n.691T>A c.208T>A (p.Ser70Thr) c.202T>A (p.Ser68Thr) | |
| 7 | g.44153305G>A | CA454610451 | GCK | c.*202C>T (n.*202C>T) c.204C>T (p.Gly68=) n.690C>T c.207C>T (p.Gly69=) c.201C>T (p.Gly67=) | |
| 7 | g.44153305G>C | CA454610452 | GCK | c.*202C>G (n.*202C>G) c.204C>G (p.Gly68=) n.690C>G c.207C>G (p.Gly69=) c.201C>G (p.Gly67=) | |
| 7 | g.44153305G>T | CA454610454 | GCK | c.*202C>A (n.*202C>A) c.204C>A (p.Gly68=) n.690C>A c.207C>A (p.Gly69=) c.201C>A (p.Gly67=) | |
| 7 | g.44153306C>A | CA367403217 | GCK | c.*201G>T (n.*201G>T) c.203G>T (p.Gly68Val) n.689G>T c.206G>T (p.Gly69Val) c.200G>T (p.Gly67Val) | |
| 7 | g.44153306C= | CA1703637511 | GCK | c.*201G= (n.*201G=) c.203G= (p.Gly68=) n.689G= c.206G= (p.Gly69=) c.200G= (p.Gly67=) | |
| 7 | g.44153306C>G | CA367403218 | GCK | c.*201G>C (n.*201G>C) c.203G>C (p.Gly68Ala) n.689G>C c.206G>C (p.Gly69Ala) c.200G>C (p.Gly67Ala) | |
| 7 | g.44153306C>T | CA157919943 | GCK | c.*201G>A (n.*201G>A) c.203G>A (p.Gly68Asp) n.689G>A c.206G>A (p.Gly69Asp) c.200G>A (p.Gly67Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153307C>A | CA367403220 | GCK | c.*200G>T (n.*200G>T) c.202G>T (p.Gly68Cys) n.688G>T c.205G>T (p.Gly69Cys) c.199G>T (p.Gly67Cys) | |
| 7 | g.44153307C>G | CA367403222 | GCK | c.*200G>C (n.*200G>C) c.202G>C (p.Gly68Arg) n.688G>C c.205G>C (p.Gly69Arg) c.199G>C (p.Gly67Arg) | |
| 7 | g.44153307C>T | CA367403223 | GCK | c.*200G>A (n.*200G>A) c.202G>A (p.Gly68Ser) n.688G>A c.205G>A (p.Gly69Ser) c.199G>A (p.Gly67Ser) | COSMIC COSMIC |
| 7 | g.44153308T>A | CA367403225 | GCK | c.*199A>T (n.*199A>T) c.201A>T (p.Glu67Asp) n.687A>T c.204A>T (p.Glu68Asp) c.198A>T (p.Glu66Asp) | |
| 7 | g.44153308T>C | CA454610459 | GCK | c.*199A>G (n.*199A>G) c.201A>G (p.Glu67=) n.687A>G c.204A>G (p.Glu68=) c.198A>G (p.Glu66=) | |
| 7 | g.44153308T>G | CA367403227 | GCK | c.*199A>C (n.*199A>C) c.201A>C (p.Glu67Asp) n.687A>C c.204A>C (p.Glu68Asp) c.198A>C (p.Glu66Asp) | |
| 7 | g.44153309T>A | CA367403229 | GCK | c.*198A>T (n.*198A>T) c.200A>T (p.Glu67Val) n.686A>T c.203A>T (p.Glu68Val) c.197A>T (p.Glu66Val) | |
| 7 | g.44153309T>C | CA367403230 | GCK | c.*198A>G (n.*198A>G) c.200A>G (p.Glu67Gly) n.686A>G c.203A>G (p.Glu68Gly) c.197A>G (p.Glu66Gly) | dbSNP |
| 7 | g.44153309T>G | CA367403232 | GCK | c.*198A>C (n.*198A>C) c.200A>C (p.Glu67Ala) n.686A>C c.203A>C (p.Glu68Ala) c.197A>C (p.Glu66Ala) | |
| 7 | g.44153309T= | CA1703637512 | GCK | c.*198A= (n.*198A=) c.200A= (p.Glu67=) n.686A= c.203A= (p.Glu68=) c.197A= (p.Glu66=) | |
| 7 | g.44153310C>A | CA367403234 | GCK | c.*197G>T (n.*197G>T) c.199G>T (p.Glu67Ter) n.685G>T c.202G>T (p.Glu68Ter) c.196G>T (p.Glu66Ter) | |
| 7 | g.44153310C>G | CA367403236 | GCK | c.*197G>C (n.*197G>C) c.199G>C (p.Glu67Gln) n.685G>C c.202G>C (p.Glu68Gln) c.196G>C (p.Glu66Gln) | |
| 7 | g.44153310C>T | CA367403237 | GCK | c.*197G>A (n.*197G>A) c.199G>A (p.Glu67Lys) n.685G>A c.202G>A (p.Glu68Lys) c.196G>A (p.Glu66Lys) | |
| 7 | g.44153311T>A | CA454610467 | GCK | c.*196A>T (n.*196A>T) c.198A>T (p.Pro66=) n.684A>T c.201A>T (p.Pro67=) c.195A>T (p.Pro65=) | |
| 7 | g.44153311T>C | CA10626144 | GCK | c.*196A>G (n.*196A>G) c.198A>G (p.Pro66=) n.684A>G c.201A>G (p.Pro67=) c.195A>G (p.Pro65=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153311T>G | CA454610466 | GCK | c.*196A>C (n.*196A>C) c.198A>C (p.Pro66=) n.684A>C c.201A>C (p.Pro67=) c.195A>C (p.Pro65=) | |
| 7 | g.44153311T= | CA1703637513 | GCK | c.*196A= (n.*196A=) c.198A= (p.Pro66=) n.684A= c.201A= (p.Pro67=) c.195A= (p.Pro65=) | |
| 7 | g.44153312G>A | CA367403239 | GCK | c.*195C>T (n.*195C>T) c.197C>T (p.Pro66Leu) n.683C>T c.200C>T (p.Pro67Leu) c.194C>T (p.Pro65Leu) | |
| 7 | g.44153312G>C | CA367403241 | GCK | c.*195C>G (n.*195C>G) c.197C>G (p.Pro66Arg) n.683C>G c.200C>G (p.Pro67Arg) c.194C>G (p.Pro65Arg) | |
| 7 | g.44153312G>T | CA367403242 | GCK | c.*195C>A (n.*195C>A) c.197C>A (p.Pro66Gln) n.683C>A c.200C>A (p.Pro67Gln) c.194C>A (p.Pro65Gln) | |
| 7 | g.44153313G>A | CA367403244 | GCK | c.*194C>T (n.*194C>T) c.196C>T (p.Pro66Ser) n.682C>T c.199C>T (p.Pro67Ser) c.193C>T (p.Pro65Ser) | COSMIC COSMIC COSMIC |
| 7 | g.44153313G>C | CA367403245 | GCK | c.*194C>G (n.*194C>G) c.196C>G (p.Pro66Ala) n.682C>G c.199C>G (p.Pro67Ala) c.193C>G (p.Pro65Ala) | |
| 7 | g.44153313G= | CA1703637514 | GCK | c.*194C= (n.*194C=) c.196C= (p.Pro66=) n.682C= c.199C= (p.Pro67=) c.193C= (p.Pro65=) | |
| 7 | g.44153313G>T | CA367403247 | GCK | c.*194C>A (n.*194C>A) c.196C>A (p.Pro66Thr) n.682C>A c.199C>A (p.Pro67Thr) c.193C>A (p.Pro65Thr) | |
| 7 | g.44153314G>A | CA454610475 | GCK | c.*193C>T (n.*193C>T) c.195C>T (p.Thr65=) n.681C>T c.198C>T (p.Thr66=) c.192C>T (p.Thr64=) | |
| 7 | g.44153314G>C | CA454610477 | GCK | c.*193C>G (n.*193C>G) c.195C>G (p.Thr65=) n.681C>G c.198C>G (p.Thr66=) c.192C>G (p.Thr64=) | |
| 7 | g.44153314G>T | CA454610474 | GCK | c.*193C>A (n.*193C>A) c.195C>A (p.Thr65=) n.681C>A c.198C>A (p.Thr66=) c.192C>A (p.Thr64=) | |
| 7 | g.44153316_44153318dup | CA1703637515 | GCK | c.*191_*193dup (n.*191_*193dup) c.193_195dup (p.Thr65_Pro66insThr) n.679_681dup c.196_198dup (p.Thr66_Pro67insThr) c.190_192dup (p.Thr64_Pro65insThr) | dbSNP |
| 7 | g.44153315G>A | CA367403249 | GCK | c.*192C>T (n.*192C>T) c.194C>T (p.Thr65Ile) n.680C>T c.197C>T (p.Thr66Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153315G>C | CA367403251 | GCK | c.*192C>G (n.*192C>G) c.194C>G (p.Thr65Ser) n.680C>G c.197C>G (p.Thr66Ser) c.191C>G (p.Thr64Ser) | |
| 7 | g.44153315G>T | CA367403252 | GCK | c.*192C>A (n.*192C>A) c.194C>A (p.Thr65Asn) n.680C>A c.197C>A (p.Thr66Asn) c.191C>A (p.Thr64Asn) | gnomAD v4 |
| 7 | g.44153316T>A | CA501070 | GCK | c.*191A>T (n.*191A>T) c.193A>T (p.Thr65Ser) n.679A>T c.196A>T (p.Thr66Ser) c.190A>T (p.Thr64Ser) | |
| 7 | g.44153316T>C | CA367403255 | GCK | c.*191A>G (n.*191A>G) c.193A>G (p.Thr65Ala) n.679A>G c.196A>G (p.Thr66Ala) c.190A>G (p.Thr64Ala) |