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.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44152300_44152317delinsCGGGGATGGAGTACATCT | CA1703637038 | GCK | c.*315_*332delinsAGATGTACTCCATCCCCG (n.*315_*332delinsAGATGTACTCCATCCCCG) c.317_334delinsAGATGTACTCCATCCCCG (p.Gln106=) n.803_820delinsAGATGTACTCCATCCCCG c.320_337delinsAGATGTACTCCATCCCCG (p.Gln107=) c.314_331delinsAGATGTACTCCATCCCCG (p.Gln105=) | |
| 7 | g.44152303_44152319del | CA206713 | GCK | c.*315_*331del (n.*315_*331del) c.317_333del (p.Gln106ArgfsTer9) n.803_819del c.320_336del (p.Gln107ArgfsTer9) c.314_330del (p.Gln105ArgfsTer9) | ClinVar dbSNP |
| 7 | g.44152312A= | CA1703637045 | GCK | c.*320T= (n.*320T=) c.322T= (p.Tyr108=) n.808T= c.325T= (p.Tyr109=) c.319T= (p.Tyr107=) | |
| 7 | g.44152312A>C | CA213777 | GCK | c.*320T>G (n.*320T>G) c.322T>G (p.Tyr108Asp) n.808T>G c.325T>G (p.Tyr109Asp) c.319T>G (p.Tyr107Asp) | ClinVar dbSNP |
| 7 | g.44152312A>G | CA367402690 | GCK | c.*320T>C (n.*320T>C) c.322T>C (p.Tyr108His) n.808T>C c.325T>C (p.Tyr109His) c.319T>C (p.Tyr107His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44152312A>T | CA367402688 | GCK | c.*320T>A (n.*320T>A) c.322T>A (p.Tyr108Asn) n.808T>A c.325T>A (p.Tyr109Asn) c.319T>A (p.Tyr107Asn) | |
| 7 | g.44152313C>A | CA367402692 | GCK | c.*319G>T (n.*319G>T) c.321G>T (p.Met107Ile) n.807G>T c.324G>T (p.Met108Ile) c.318G>T (p.Met106Ile) | |
| 7 | g.44152313C>G | CA367402695 | GCK | c.*319G>C (n.*319G>C) c.321G>C (p.Met107Ile) n.807G>C c.324G>C (p.Met108Ile) c.318G>C (p.Met106Ile) | |
| 7 | g.44152313C>T | CA367402694 | GCK | c.*319G>A (n.*319G>A) c.321G>A (p.Met107Ile) n.807G>A c.324G>A (p.Met108Ile) c.318G>A (p.Met106Ile) | |
| 7 | g.44152314A>C | CA367402697 | GCK | c.*318T>G (n.*318T>G) c.320T>G (p.Met107Arg) n.806T>G c.323T>G (p.Met108Arg) c.317T>G (p.Met106Arg) | |
| 7 | g.44152314A>G | CA367402699 | GCK | c.*318T>C (n.*318T>C) c.320T>C (p.Met107Thr) n.806T>C c.323T>C (p.Met108Thr) c.317T>C (p.Met106Thr) | gnomAD v4 |
| 7 | g.44152314A>T | CA367402700 | GCK | c.*318T>A (n.*318T>A) c.320T>A (p.Met107Lys) n.806T>A c.323T>A (p.Met108Lys) c.317T>A (p.Met106Lys) | |
| 7 | g.44152314dup | CA2573142147 | GCK | c.*318dup (n.*318dup) c.320dup (p.Met107IlefsTer14) n.806dup c.323dup (p.Met108IlefsTer14) c.317dup (p.Met106IlefsTer14) | ClinVar dbSNP |
| 7 | g.44152315T>A | CA367402702 | GCK | c.*317A>T (n.*317A>T) c.319A>T (p.Met107Leu) n.805A>T c.322A>T (p.Met108Leu) c.316A>T (p.Met106Leu) | |
| 7 | g.44152315T>C | CA367402704 | GCK | c.*317A>G (n.*317A>G) c.319A>G (p.Met107Val) n.805A>G c.322A>G (p.Met108Val) c.316A>G (p.Met106Val) | |
| 7 | g.44152315T>G | CA367402705 | GCK | c.*317A>C (n.*317A>C) c.319A>C (p.Met107Leu) n.805A>C c.322A>C (p.Met108Leu) c.316A>C (p.Met106Leu) | |
| 7 | g.44152315_44152317del | CA2695202990 | GCK | c.*315_*317del (n.*315_*317del) c.317_319del (p.Gln106_Met107delinsLeu) n.803_805del c.320_322del (p.Gln107_Met108delinsLeu) c.314_316del (p.Gln105_Met106delinsLeu) | |
| 7 | g.44152316C>A | CA367402708 | GCK | c.*316G>T (n.*316G>T) c.318G>T (p.Gln106His) n.804G>T c.321G>T (p.Gln107His) c.315G>T (p.Gln105His) | |
| 7 | g.44152316C>G | CA367402709 | GCK | c.*316G>C (n.*316G>C) c.318G>C (p.Gln106His) n.804G>C c.321G>C (p.Gln107His) c.315G>C (p.Gln105His) | ClinVar COSMIC COSMIC |
| 7 | g.44152316C>T | CA454610207 | GCK | c.*316G>A (n.*316G>A) c.318G>A (p.Gln106=) n.804G>A c.321G>A (p.Gln107=) c.315G>A (p.Gln105=) | |
| 7 | g.44152317del | CA2573052881 | GCK | c.*315del (n.*315del) c.317del (p.Gln106ArgfsTer10) n.803del c.320del (p.Gln107ArgfsTer10) c.314del (p.Gln105ArgfsTer10) | ClinVar dbSNP |
| 7 | g.44152317T>A | CA367402711 | GCK | c.*315A>T (n.*315A>T) c.317A>T (p.Gln106Leu) n.803A>T c.320A>T (p.Gln107Leu) c.314A>T (p.Gln105Leu) | |
| 7 | g.44152317T>C | CA367402712 | GCK | c.*315A>G (n.*315A>G) c.317A>G (p.Gln106Arg) n.803A>G c.320A>G (p.Gln107Arg) c.314A>G (p.Gln105Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152317T>G | CA367402714 | GCK | c.*315A>C (n.*315A>C) c.317A>C (p.Gln106Pro) n.803A>C c.320A>C (p.Gln107Pro) c.314A>C (p.Gln105Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152317T= | CA1703637046 | GCK | c.*315A= (n.*315A=) c.317A= (p.Gln106=) n.803A= c.320A= (p.Gln107=) c.314A= (p.Gln105=) | |
| 7 | g.44152318G>A | CA367402719 | GCK | c.*314C>T (n.*314C>T) c.316C>T (p.Gln106Ter) n.802C>T c.319C>T (p.Gln107Ter) c.313C>T (p.Gln105Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44152318G>C | CA367402716 | GCK | c.*314C>G (n.*314C>G) c.316C>G (p.Gln106Glu) n.802C>G c.319C>G (p.Gln107Glu) c.313C>G (p.Gln105Glu) | |
| 7 | g.44152318G= | CA1703637047 | GCK | c.*314C= (n.*314C=) c.316C= (p.Gln106=) n.802C= c.319C= (p.Gln107=) c.313C= (p.Gln105=) | |
| 7 | g.44152318G>T | CA367402718 | GCK | c.*314C>A (n.*314C>A) c.316C>A (p.Gln106Lys) n.802C>A c.319C>A (p.Gln107Lys) c.313C>A (p.Gln105Lys) | |
| 7 | g.44152319G>A | CA4239678 | GCK | c.*313C>T (n.*313C>T) c.315C>T (p.His105=) n.801C>T c.318C>T (p.His106=) c.312C>T (p.His104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152319G>C | CA367402723 | GCK | c.*313C>G (n.*313C>G) c.315C>G (p.His105Gln) n.801C>G c.318C>G (p.His106Gln) c.312C>G (p.His104Gln) | |
| 7 | g.44152319G= | CA1703637048 | GCK | c.*313C= (n.*313C=) c.315C= (p.His105=) n.801C= c.318C= (p.His106=) c.312C= (p.His104=) | |
| 7 | g.44152319G>T | CA367402724 | GCK | c.*313C>A (n.*313C>A) c.315C>A (p.His105Gln) n.801C>A c.318C>A (p.His106Gln) c.312C>A (p.His104Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152320T>A | CA367402726 | GCK | c.*312A>T (n.*312A>T) c.314A>T (p.His105Leu) n.800A>T c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
| 7 | g.44152320T>C | CA367402728 | GCK | c.*312A>G (n.*312A>G) c.314A>G (p.His105Arg) n.800A>G c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152320T>G | CA367402729 | GCK | c.*312A>C (n.*312A>C) c.314A>C (p.His105Pro) n.800A>C c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
| 7 | g.44152320T= | CA1703637049 | GCK | c.*312A= (n.*312A=) c.314A= (p.His105=) n.800A= c.317A= (p.His106=) c.311A= (p.His104=) | |
| 7 | g.44152322_44152325del | CA2695202994 | GCK | c.*309_*312del (n.*309_*312del) c.311_314del (p.Lys104ThrfsTer11) n.797_800del c.314_317del (p.Lys105ThrfsTer11) c.308_311del (p.Lys103ThrfsTer11) | |
| 7 | g.44152321del | CA2695202995 | GCK | c.*311del (n.*311del) c.313del (p.His105ThrfsTer11) n.799del c.316del (p.His106ThrfsTer11) c.310del (p.His104ThrfsTer11) | |
| 7 | g.44152321G>A | CA367402731 | GCK | c.*311C>T (n.*311C>T) c.313C>T (p.His105Tyr) n.799C>T c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | gnomAD v4 |
| 7 | g.44152321G>C | CA367402733 | GCK | c.*311C>G (n.*311C>G) c.313C>G (p.His105Asp) n.799C>G c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
| 7 | g.44152321G>T | CA367402734 | GCK | c.*311C>A (n.*311C>A) c.313C>A (p.His105Asn) n.799C>A c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | dbSNP |
| 7 | g.44152329_44152330insCCGTTTGGTCT | CA2695202996 | GCK | c.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC) c.313_314insGGAGACCAAAC (p.His105ArgfsTer15) n.799_800insGGAGACCAAAC c.316_317insGGAGACCAAAC (p.His106ArgfsTer15) c.310_311insGGAGACCAAAC (p.His104ArgfsTer15) | |
| 7 | g.44152322T>A | CA367402735 | GCK | c.*310A>T (n.*310A>T) c.312A>T (p.Lys104Asn) n.798A>T c.315A>T (p.Lys105Asn) c.309A>T (p.Lys103Asn) | |
| 7 | g.44152322T>C | CA454610212 | GCK | c.*310A>G (n.*310A>G) c.312A>G (p.Lys104=) n.798A>G c.315A>G (p.Lys105=) c.309A>G (p.Lys103=) | |
| 7 | g.44152322T>G | CA367402736 | GCK | c.*310A>C (n.*310A>C) c.312A>C (p.Lys104Asn) n.798A>C c.315A>C (p.Lys105Asn) c.309A>C (p.Lys103Asn) | |
| 7 | g.44152323T>A | CA367402739 | GCK | c.*309A>T (n.*309A>T) c.311A>T (p.Lys104Ile) n.797A>T c.314A>T (p.Lys105Ile) c.308A>T (p.Lys103Ile) | |
| 7 | g.44152323T>C | CA367402740 | GCK | c.*309A>G (n.*309A>G) c.311A>G (p.Lys104Arg) n.797A>G c.314A>G (p.Lys105Arg) c.308A>G (p.Lys103Arg) | |
| 7 | g.44152323T>G | CA367402738 | GCK | c.*309A>C (n.*309A>C) c.311A>C (p.Lys104Thr) n.797A>C c.314A>C (p.Lys105Thr) c.308A>C (p.Lys103Thr) |