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.44147644C>A | CA1703634866 | GCK | c.*861+6G>T (n.*861+6G>T) c.853+16G>T (n.853+16G>T) c.866+6G>T (n.866+6G>T) c.863+6G>T (n.863+6G>T) c.860+6G>T (n.860+6G>T) c.812+6G>T (n.812+6G>T) | dbSNP |
| 7 | g.44147644C= | CA1703634865 | GCK | c.*861+6G= (n.*861+6G=) c.853+16G= (n.853+16G=) c.866+6G= (n.866+6G=) c.863+6G= (n.863+6G=) c.860+6G= (n.860+6G=) c.812+6G= (n.812+6G=) | |
| 7 | g.44147645C>A | CA2695203079 | GCK | c.*861+5G>T (n.*861+5G>T) c.853+15G>T (n.853+15G>T) c.866+5G>T (n.866+5G>T) c.863+5G>T (n.863+5G>T) c.860+5G>T (n.860+5G>T) c.812+5G>T (n.812+5G>T) | ClinVar |
| 7 | g.44147645C>T | CA2580618177 | GCK | c.*861+5G>A (n.*861+5G>A) c.853+15G>A (n.853+15G>A) c.866+5G>A (n.866+5G>A) c.863+5G>A (n.863+5G>A) c.860+5G>A (n.860+5G>A) c.812+5G>A (n.812+5G>A) | ClinVar |
| 7 | g.44147647T>C | CA213858 | GCK | c.*861+3A>G (n.*861+3A>G) c.853+13A>G (n.853+13A>G) c.866+3A>G (n.866+3A>G) c.863+3A>G (n.863+3A>G) c.860+3A>G (n.860+3A>G) c.812+3A>G (n.812+3A>G) | ClinVar dbSNP |
| 7 | g.44147647T= | CA1703634867 | GCK | c.*861+3A= (n.*861+3A=) c.853+13A= (n.853+13A=) c.866+3A= (n.866+3A=) c.863+3A= (n.863+3A=) c.860+3A= (n.860+3A=) c.812+3A= (n.812+3A=) | |
| 7 | g.44147648A>C | CA367400392 | GCK | c.*861+2T>G (n.*861+2T>G) c.853+12T>G (n.853+12T>G) c.866+2T>G (n.866+2T>G) c.863+2T>G (n.863+2T>G) c.860+2T>G (n.860+2T>G) c.812+2T>G (n.812+2T>G) | |
| 7 | g.44147648A>G | CA367400393 | GCK | c.*861+2T>C (n.*861+2T>C) c.853+12T>C (n.853+12T>C) c.866+2T>C (n.866+2T>C) c.863+2T>C (n.863+2T>C) c.860+2T>C (n.860+2T>C) c.812+2T>C (n.812+2T>C) | |
| 7 | g.44147648A>T | CA367400394 | GCK | c.*861+2T>A (n.*861+2T>A) c.853+12T>A (n.853+12T>A) c.866+2T>A (n.866+2T>A) c.863+2T>A (n.863+2T>A) c.860+2T>A (n.860+2T>A) c.812+2T>A (n.812+2T>A) | |
| 7 | g.44147649C>A | CA367400395 | GCK | c.*861+1G>T (n.*861+1G>T) c.853+11G>T (n.853+11G>T) c.866+1G>T (n.866+1G>T) c.863+1G>T (n.863+1G>T) c.860+1G>T (n.860+1G>T) c.812+1G>T (n.812+1G>T) | |
| 7 | g.44147649C= | CA1703634868 | GCK | c.*861+1G= (n.*861+1G=) c.853+11G= (n.853+11G=) c.866+1G= (n.866+1G=) c.863+1G= (n.863+1G=) c.860+1G= (n.860+1G=) c.812+1G= (n.812+1G=) | |
| 7 | g.44147649C>G | CA367400396 | GCK | c.*861+1G>C (n.*861+1G>C) c.853+11G>C (n.853+11G>C) c.866+1G>C (n.866+1G>C) c.863+1G>C (n.863+1G>C) c.860+1G>C (n.860+1G>C) c.812+1G>C (n.812+1G>C) | |
| 7 | g.44147649C>T | CA367400397 | GCK | c.*861+1G>A (n.*861+1G>A) c.853+11G>A (n.853+11G>A) c.866+1G>A (n.866+1G>A) c.863+1G>A (n.863+1G>A) c.860+1G>A (n.860+1G>A) c.812+1G>A (n.812+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147650A= | CA1703634869 | GCK | c.*861T= (n.*861T=) c.853+10T= (n.853+10T=) c.866T= (p.Leu289=) c.863T= (p.Leu288=) c.860T= (p.Leu287=) c.812T= (p.Leu271=) | |
| 7 | g.44147650A>C | CA4239511 | GCK | c.*861T>G (n.*861T>G) c.853+10T>G (n.853+10T>G) c.866T>G (p.Leu289Arg) c.863T>G (p.Leu288Arg) c.860T>G (p.Leu287Arg) c.812T>G (p.Leu271Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147650A>G | CA367400398 | GCK | c.*861T>C (n.*861T>C) c.853+10T>C (n.853+10T>C) c.866T>C (p.Leu289Pro) c.863T>C (p.Leu288Pro) c.860T>C (p.Leu287Pro) c.812T>C (p.Leu271Pro) | |
| 7 | g.44147650A>T | CA367400399 | GCK | c.*861T>A (n.*861T>A) c.853+10T>A (n.853+10T>A) c.866T>A (p.Leu289Gln) c.863T>A (p.Leu288Gln) c.860T>A (p.Leu287Gln) c.812T>A (p.Leu271Gln) | |
| 7 | g.44147651G>A | CA454608497 | GCK | c.*860C>T (n.*860C>T) c.853+9C>T (n.853+9C>T) c.865C>T (p.Leu289=) c.862C>T (p.Leu288=) c.859C>T (p.Leu287=) c.811C>T (p.Leu271=) | |
| 7 | g.44147651G>C | CA367400400 | GCK | c.*860C>G (n.*860C>G) c.853+9C>G (n.853+9C>G) c.865C>G (p.Leu289Val) c.862C>G (p.Leu288Val) c.859C>G (p.Leu287Val) c.811C>G (p.Leu271Val) | |
| 7 | g.44147651G>T | CA367400401 | GCK | c.*860C>A (n.*860C>A) c.853+9C>A (n.853+9C>A) c.865C>A (p.Leu289Met) c.862C>A (p.Leu288Met) c.859C>A (p.Leu287Met) c.811C>A (p.Leu271Met) | |
| 7 | g.44147652C>A | CA367400402 | GCK | c.*859G>T (n.*859G>T) c.853+8G>T (n.853+8G>T) c.864G>T (p.Gln288His) c.861G>T (p.Gln287His) c.858G>T (p.Gln286His) c.810G>T (p.Gln270His) | |
| 7 | g.44147652C>G | CA367400403 | GCK | c.*859G>C (n.*859G>C) c.853+8G>C (n.853+8G>C) c.864G>C (p.Gln288His) c.861G>C (p.Gln287His) c.858G>C (p.Gln286His) c.810G>C (p.Gln270His) | |
| 7 | g.44147652C>T | CA454608499 | GCK | c.*859G>A (n.*859G>A) c.853+8G>A (n.853+8G>A) c.864G>A (p.Gln288=) c.861G>A (p.Gln287=) c.858G>A (p.Gln286=) c.810G>A (p.Gln270=) | |
| 7 | g.44147653T>A | CA367400404 | GCK | c.*858A>T (n.*858A>T) c.853+7A>T (n.853+7A>T) c.863A>T (p.Gln288Leu) c.860A>T (p.Gln287Leu) c.857A>T (p.Gln286Leu) c.809A>T (p.Gln270Leu) | COSMIC COSMIC COSMIC |
| 7 | g.44147653T>C | CA367400406 | GCK | c.*858A>G (n.*858A>G) c.853+7A>G (n.853+7A>G) c.863A>G (p.Gln288Arg) c.860A>G (p.Gln287Arg) c.857A>G (p.Gln286Arg) c.809A>G (p.Gln270Arg) | gnomAD v4 |
| 7 | g.44147653T>G | CA367400405 | GCK | c.*858A>C (n.*858A>C) c.853+7A>C (n.853+7A>C) c.863A>C (p.Gln288Pro) c.860A>C (p.Gln287Pro) c.857A>C (p.Gln286Pro) c.809A>C (p.Gln270Pro) | |
| 7 | g.44147654G>A | CA367400407 | GCK | c.*857C>T (n.*857C>T) c.853+6C>T (n.853+6C>T) c.862C>T (p.Gln288Ter) c.859C>T (p.Gln287Ter) c.856C>T (p.Gln286Ter) c.808C>T (p.Gln270Ter) | |
| 7 | g.44147654G>C | CA367400409 | GCK | c.*857C>G (n.*857C>G) c.853+6C>G (n.853+6C>G) c.862C>G (p.Gln288Glu) c.859C>G (p.Gln287Glu) c.856C>G (p.Gln286Glu) c.808C>G (p.Gln270Glu) | ClinVar |
| 7 | g.44147654G>T | CA367400408 | GCK | c.*857C>A (n.*857C>A) c.853+6C>A (n.853+6C>A) c.862C>A (p.Gln288Lys) c.859C>A (p.Gln287Lys) c.856C>A (p.Gln286Lys) c.808C>A (p.Gln270Lys) | |
| 7 | g.44147655C>A | CA367400410 | GCK | c.*856G>T (n.*856G>T) c.853+5G>T (n.853+5G>T) c.861G>T (p.Gln287His) c.858G>T (p.Gln286His) c.855G>T (p.Gln285His) c.807G>T (p.Gln269His) | |
| 7 | g.44147655C>G | CA367400411 | GCK | c.*856G>C (n.*856G>C) c.853+5G>C (n.853+5G>C) c.861G>C (p.Gln287His) c.858G>C (p.Gln286His) c.855G>C (p.Gln285His) c.807G>C (p.Gln269His) | |
| 7 | g.44147655C>T | CA454608510 | GCK | c.*856G>A (n.*856G>A) c.853+5G>A (n.853+5G>A) c.861G>A (p.Gln287=) c.858G>A (p.Gln286=) c.855G>A (p.Gln285=) c.807G>A (p.Gln269=) | |
| 7 | g.44147656T>A | CA367400412 | GCK | c.*855A>T (n.*855A>T) c.853+4A>T (n.853+4A>T) c.860A>T (p.Gln287Leu) c.857A>T (p.Gln286Leu) c.854A>T (p.Gln285Leu) c.806A>T (p.Gln269Leu) | |
| 7 | g.44147656T>C | CA367400413 | GCK | c.*855A>G (n.*855A>G) c.853+4A>G (n.853+4A>G) c.860A>G (p.Gln287Arg) c.857A>G (p.Gln286Arg) c.854A>G (p.Gln285Arg) c.806A>G (p.Gln269Arg) | |
| 7 | g.44147656T>G | CA367400414 | GCK | c.*855A>C (n.*855A>C) c.853+4A>C (n.853+4A>C) c.860A>C (p.Gln287Pro) c.857A>C (p.Gln286Pro) c.854A>C (p.Gln285Pro) c.806A>C (p.Gln269Pro) | |
| 7 | g.44147657G>A | CA367400415 | GCK | c.*854C>T (n.*854C>T) c.853+3C>T (n.853+3C>T) c.859C>T (p.Gln287Ter) c.856C>T (p.Gln286Ter) c.853C>T (p.Gln285Ter) c.805C>T (p.Gln269Ter) | ClinVar |
| 7 | g.44147657G>C | CA367400416 | GCK | c.*854C>G (n.*854C>G) c.853+3C>G (n.853+3C>G) c.859C>G (p.Gln287Glu) c.856C>G (p.Gln286Glu) c.853C>G (p.Gln285Glu) c.805C>G (p.Gln269Glu) | |
| 7 | g.44147657G>T | CA367400417 | GCK | c.*854C>A (n.*854C>A) c.853+3C>A (n.853+3C>A) c.859C>A (p.Gln287Lys) c.856C>A (p.Gln286Lys) c.853C>A (p.Gln285Lys) c.805C>A (p.Gln269Lys) | |
| 7 | g.44147658A>C | CA454608516 | GCK | c.*853T>G (n.*853T>G) c.853+2T>G (n.853+2T>G) c.858T>G (p.Gly286=) c.855T>G (p.Gly285=) c.852T>G (p.Gly284=) c.804T>G (p.Gly268=) | |
| 7 | g.44147658A>G | CA454608518 | GCK | c.*853T>C (n.*853T>C) c.853+2T>C (n.853+2T>C) c.858T>C (p.Gly286=) c.855T>C (p.Gly285=) c.852T>C (p.Gly284=) c.804T>C (p.Gly268=) | |
| 7 | g.44147658A>T | CA454608519 | GCK | c.*853T>A (n.*853T>A) c.853+2T>A (n.853+2T>A) c.858T>A (p.Gly286=) c.855T>A (p.Gly285=) c.852T>A (p.Gly284=) c.804T>A (p.Gly268=) | |
| 7 | g.44147658_44147659delinsAC | CA1703634870 | GCK | c.*852_*853delinsGT (n.*852_*853delinsGT) c.853+1_853+2delinsGT (n.853+1_853+2delinsGT) c.857_858delinsGT (p.Gly286=) c.854_855delinsGT (p.Gly285=) c.851_852delinsGT (p.Gly284=) c.803_804delinsGT (p.Gly268=) | |
| 7 | g.44147659C>A | CA367400418 | GCK | c.*852G>T (n.*852G>T) c.853+1G>T (n.853+1G>T) c.857G>T (p.Gly286Val) c.854G>T (p.Gly285Val) c.851G>T (p.Gly284Val) c.803G>T (p.Gly268Val) | |
| 7 | g.44147659C>G | CA367400419 | GCK | c.*852G>C (n.*852G>C) c.853+1G>C (n.853+1G>C) c.857G>C (p.Gly286Ala) c.854G>C (p.Gly285Ala) c.851G>C (p.Gly284Ala) c.803G>C (p.Gly268Ala) | |
| 7 | g.44147659C>T | CA367400420 | GCK | c.*852G>A (n.*852G>A) c.853+1G>A (n.853+1G>A) c.857G>A (p.Gly286Asp) c.854G>A (p.Gly285Asp) c.851G>A (p.Gly284Asp) c.803G>A (p.Gly268Asp) | |
| 7 | g.44147660del | CA915944917 | GCK | c.*852del (n.*852del) c.853+1del c.857del (p.Gly286ValfsTer9) c.854del (p.Gly285ValfsTer9) c.851del (p.Gly284ValfsTer9) c.803del (p.Gly268ValfsTer9) | ClinVar dbSNP |
| 7 | g.44147660C>A | CA367400422 | GCK | c.*851G>T (n.*851G>T) c.853G>T (p.Gly285Cys) c.856G>T (p.Gly286Cys) c.850G>T (p.Gly284Cys) c.802G>T (p.Gly268Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147660C= | CA1703634871 | GCK | c.*851G= (n.*851G=) c.853G= (p.Gly285=) c.856G= (p.Gly286=) c.850G= (p.Gly284=) c.802G= (p.Gly268=) | |
| 7 | g.44147660C>G | CA4239512 | GCK | c.*851G>C (n.*851G>C) c.853G>C (p.Gly285Arg) c.856G>C (p.Gly286Arg) c.850G>C (p.Gly284Arg) c.802G>C (p.Gly268Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147660C>T | CA367400421 | GCK | c.*851G>A (n.*851G>A) c.853G>A (p.Gly285Ser) c.856G>A (p.Gly286Ser) c.850G>A (p.Gly284Ser) c.802G>A (p.Gly268Ser) | dbSNP gnomAD v2 gnomAD v4 |