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.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 |
| 7 | g.44147661G>A | CA4239513 | GCK | c.*850C>T (n.*850C>T) c.852C>T (p.Pro284=) c.855C>T (p.Pro285=) c.849C>T (p.Pro283=) c.801C>T (p.Pro267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147661G>C | CA454608521 | GCK | c.*850C>G (n.*850C>G) c.852C>G (p.Pro284=) c.855C>G (p.Pro285=) c.849C>G (p.Pro283=) c.801C>G (p.Pro267=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147661G= | CA1703634872 | GCK | c.*850C= (n.*850C=) c.852C= (p.Pro284=) c.855C= (p.Pro285=) c.849C= (p.Pro283=) c.801C= (p.Pro267=) | |
| 7 | g.44147661G>T | CA454608523 | GCK | c.*850C>A (n.*850C>A) c.852C>A (p.Pro284=) c.855C>A (p.Pro285=) c.849C>A (p.Pro283=) c.801C>A (p.Pro267=) | |
| 7 | g.44147664dup | CA2739265440 | GCK | c.*850dup (n.*850dup) c.852dup (p.Gly285ArgfsTer?) c.855dup (p.Gly286ArgfsTer6) c.852dup (p.Gly285ArgfsTer6) c.852dup (p.Gly285ArgfsTer2) c.849dup (p.Gly284ArgfsTer6) c.801dup (p.Gly268ArgfsTer6) | ClinVar |
| 7 | g.44147664del | CA2695203082 | GCK | c.*850del (n.*850del) c.852del (p.Gly285ValfsTer2) c.855del (p.Gly286ValfsTer9) c.852del (p.Gly285ValfsTer9) c.852del (p.Gly285ValfsTer19) c.849del (p.Gly284ValfsTer9) c.801del (p.Gly268ValfsTer9) | |
| 7 | g.44147662G>A | CA367400423 | GCK | c.*849C>T (n.*849C>T) c.851C>T (p.Pro284Leu) c.854C>T (p.Pro285Leu) c.848C>T (p.Pro283Leu) c.800C>T (p.Pro267Leu) | ClinVar dbSNP |
| 7 | g.44147662G>C | CA367400424 | GCK | c.*849C>G (n.*849C>G) c.851C>G (p.Pro284Arg) c.854C>G (p.Pro285Arg) c.848C>G (p.Pro283Arg) c.800C>G (p.Pro267Arg) | |
| 7 | g.44147662G= | CA1703634873 | GCK | c.*849C= (n.*849C=) c.851C= (p.Pro284=) c.854C= (p.Pro285=) c.848C= (p.Pro283=) c.800C= (p.Pro267=) | |
| 7 | g.44147662G>T | CA367400425 | GCK | c.*849C>A (n.*849C>A) c.851C>A (p.Pro284His) c.854C>A (p.Pro285His) c.848C>A (p.Pro283His) c.800C>A (p.Pro267His) | |
| 7 | g.44147663G>A | CA367400426 | GCK | c.*848C>T (n.*848C>T) c.850C>T (p.Pro284Ser) c.853C>T (p.Pro285Ser) c.847C>T (p.Pro283Ser) c.799C>T (p.Pro267Ser) | |
| 7 | g.44147663G>C | CA367400427 | GCK | c.*848C>G (n.*848C>G) c.850C>G (p.Pro284Ala) c.853C>G (p.Pro285Ala) c.847C>G (p.Pro283Ala) c.799C>G (p.Pro267Ala) | |
| 7 | g.44147663G>T | CA367400428 | GCK | c.*848C>A (n.*848C>A) c.850C>A (p.Pro284Thr) c.853C>A (p.Pro285Thr) c.847C>A (p.Pro283Thr) c.799C>A (p.Pro267Thr) | |
| 7 | g.44147666_44147692del | CA2695203083 | GCK | c.*822_*848del (n.*822_*848del) c.824_850del (p.Arg275_Asn283del) c.827_853del (p.Arg276_Asn284del) c.821_847del (p.Arg274_Asn282del) c.773_799del (p.Arg258_Asn266del) | |
| 7 | g.44147664G>A | CA157915565 | GCK | c.*847C>T (n.*847C>T) c.849C>T (p.Asn283=) c.852C>T (p.Asn284=) c.846C>T (p.Asn282=) c.798C>T (p.Asn266=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147664G>C | CA367400429 | GCK | c.*847C>G (n.*847C>G) c.849C>G (p.Asn283Lys) c.852C>G (p.Asn284Lys) c.846C>G (p.Asn282Lys) c.798C>G (p.Asn266Lys) | |
| 7 | g.44147664G= | CA1703634874 | GCK | c.*847C= (n.*847C=) c.849C= (p.Asn283=) c.852C= (p.Asn284=) c.846C= (p.Asn282=) c.798C= (p.Asn266=) | |
| 7 | g.44147664G>T | CA367400430 | GCK | c.*847C>A (n.*847C>A) c.849C>A (p.Asn283Lys) c.852C>A (p.Asn284Lys) c.846C>A (p.Asn282Lys) c.798C>A (p.Asn266Lys) | |
| 7 | g.44147664_44147665delinsGT | CA1703634875 | GCK | c.*846_*847delinsAC (n.*846_*847delinsAC) c.848_849delinsAC (p.Asn283=) c.851_852delinsAC (p.Asn284=) c.845_846delinsAC (p.Asn282=) c.797_798delinsAC (p.Asn266=) | |
| 7 | g.44147665T>A | CA367400432 | GCK | c.*846A>T (n.*846A>T) c.848A>T (p.Asn283Ile) c.851A>T (p.Asn284Ile) c.845A>T (p.Asn282Ile) c.797A>T (p.Asn266Ile) | |
| 7 | g.44147665T>C | CA367400433 | GCK | c.*846A>G (n.*846A>G) c.848A>G (p.Asn283Ser) c.851A>G (p.Asn284Ser) c.845A>G (p.Asn282Ser) c.797A>G (p.Asn266Ser) | |
| 7 | g.44147665T>G | CA367400431 | GCK | c.*846A>C (n.*846A>C) c.848A>C (p.Asn283Thr) c.851A>C (p.Asn284Thr) c.845A>C (p.Asn282Thr) c.797A>C (p.Asn266Thr) | dbSNP |
| 7 | g.44147665T= | CA1703634876 | GCK | c.*846A= (n.*846A=) c.848A= (p.Asn283=) c.851A= (p.Asn284=) c.845A= (p.Asn282=) c.797A= (p.Asn266=) | |
| 7 | g.44147667del | CA915944918 | GCK | c.*846del (n.*846del) c.848del (p.Asn283ThrfsTer4) c.851del (p.Asn284ThrfsTer11) c.848del (p.Asn283ThrfsTer11) c.848del (p.Asn283ThrfsTer21) c.845del (p.Asn282ThrfsTer11) c.797del (p.Asn266ThrfsTer11) | ClinVar dbSNP |
| 7 | g.44147666T>A | CA367400434 | GCK | c.*845A>T (n.*845A>T) c.847A>T (p.Asn283Tyr) c.850A>T (p.Asn284Tyr) c.844A>T (p.Asn282Tyr) c.796A>T (p.Asn266Tyr) | |
| 7 | g.44147666T>C | CA367400435 | GCK | c.*845A>G (n.*845A>G) c.847A>G (p.Asn283Asp) c.850A>G (p.Asn284Asp) c.844A>G (p.Asn282Asp) c.796A>G (p.Asn266Asp) | |
| 7 | g.44147666T>G | CA367400436 | GCK | c.*845A>C (n.*845A>C) c.847A>C (p.Asn283His) c.850A>C (p.Asn284His) c.844A>C (p.Asn282His) c.796A>C (p.Asn266His) | |
| 7 | g.44147667T>A | CA454608535 | GCK | c.*844A>T (n.*844A>T) c.846A>T (p.Ala282=) c.849A>T (p.Ala283=) c.843A>T (p.Ala281=) c.795A>T (p.Ala265=) n.1T>A | |
| 7 | g.44147667T>C | CA454608538 | GCK | c.*844A>G (n.*844A>G) c.846A>G (p.Ala282=) c.849A>G (p.Ala283=) c.843A>G (p.Ala281=) c.795A>G (p.Ala265=) n.1T>C | gnomAD v4 |