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.44153296G>A | CA838783501 | GCK | c.*206+5C>T (n.*206+5C>T) c.208+5C>T (n.208+5C>T) n.694+5C>T c.211+5C>T (n.211+5C>T) c.205+5C>T (n.205+5C>T) | dbSNP gnomAD v4 |
| 7 | g.44153296G= | CA1703637507 | GCK | c.*206+5C= (n.*206+5C=) c.208+5C= (n.208+5C=) n.694+5C= c.211+5C= (n.211+5C=) c.205+5C= (n.205+5C=) | |
| 7 | g.44153296G>T | CA2682576724 | GCK | c.*206+5C>A (n.*206+5C>A) c.208+5C>A (n.208+5C>A) n.694+5C>A c.211+5C>A (n.211+5C>A) c.205+5C>A (n.205+5C>A) | gnomAD v4 |
| 7 | g.44153297G>A | CA2578878540 | GCK | c.*206+4C>T (n.*206+4C>T) c.208+4C>T (n.208+4C>T) n.694+4C>T c.211+4C>T (n.211+4C>T) c.205+4C>T (n.205+4C>T) | |
| 7 | g.44153297G>C | CA574226426 | GCK | c.*206+4C>G (n.*206+4C>G) c.208+4C>G (n.208+4C>G) n.694+4C>G c.211+4C>G (n.211+4C>G) c.205+4C>G (n.205+4C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153297G= | CA1703637508 | GCK | c.*206+4C= (n.*206+4C=) c.208+4C= (n.208+4C=) n.694+4C= c.211+4C= (n.211+4C=) c.205+4C= (n.205+4C=) | |
| 7 | g.44153298T>A | CA500003 | GCK | c.*206+3A>T (n.*206+3A>T) c.208+3A>T (n.208+3A>T) n.694+3A>T c.211+3A>T (n.211+3A>T) c.205+3A>T (n.205+3A>T) | gnomAD v4 |
| 7 | g.44153298T>C | CA2695203014 | GCK | c.*206+3A>G (n.*206+3A>G) c.208+3A>G (n.208+3A>G) n.694+3A>G c.211+3A>G (n.211+3A>G) c.205+3A>G (n.205+3A>G) | |
| 7 | g.44153299A>C | CA367403190 | GCK | c.*206+2T>G (n.*206+2T>G) c.208+2T>G (n.208+2T>G) n.694+2T>G c.211+2T>G (n.211+2T>G) c.205+2T>G (n.205+2T>G) | |
| 7 | g.44153299A>G | CA367403194 | GCK | c.*206+2T>C (n.*206+2T>C) c.208+2T>C (n.208+2T>C) n.694+2T>C c.211+2T>C (n.211+2T>C) c.205+2T>C (n.205+2T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153299A>T | CA367403192 | GCK | c.*206+2T>A (n.*206+2T>A) c.208+2T>A (n.208+2T>A) n.694+2T>A c.211+2T>A (n.211+2T>A) c.205+2T>A (n.205+2T>A) | |
| 7 | g.44153300C>A | CA367403195 | GCK | c.*206+1G>T (n.*206+1G>T) c.208+1G>T (n.208+1G>T) n.694+1G>T c.211+1G>T (n.211+1G>T) c.205+1G>T (n.205+1G>T) | |
| 7 | g.44153300C= | CA1703637509 | GCK | c.*206+1G= (n.*206+1G=) c.208+1G= (n.208+1G=) n.694+1G= c.211+1G= (n.211+1G=) c.205+1G= (n.205+1G=) | |
| 7 | g.44153300C>G | CA367403196 | GCK | c.*206+1G>C (n.*206+1G>C) c.208+1G>C (n.208+1G>C) n.694+1G>C c.211+1G>C (n.211+1G>C) c.205+1G>C (n.205+1G>C) | |
| 7 | g.44153300C>T | CA367403198 | GCK | c.*206+1G>A (n.*206+1G>A) c.208+1G>A (n.208+1G>A) n.694+1G>A c.211+1G>A (n.211+1G>A) c.205+1G>A (n.205+1G>A) | ClinVar dbSNP |
| 7 | g.44153301C>A | CA367403199 | GCK | c.*206G>T (n.*206G>T) c.208G>T (p.Glu70Ter) n.694G>T c.211G>T (p.Glu71Ter) c.205G>T (p.Glu69Ter) | |
| 7 | g.44153301C>G | CA367403201 | GCK | c.*206G>C (n.*206G>C) c.208G>C (p.Glu70Gln) n.694G>C c.211G>C (p.Glu71Gln) c.205G>C (p.Glu69Gln) | ClinVar |
| 7 | g.44153301C>T | CA367403203 | GCK | c.*206G>A (n.*206G>A) c.208G>A (p.Glu70Lys) n.694G>A c.211G>A (p.Glu71Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 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 |