WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.44150006A= | CA1703635977 | GCK | c.*540T= (n.*540T=) c.542T= (p.Val181=) n.1028T= c.545T= (p.Val182=) c.539T= (p.Val180=) c.491T= (p.Val164=) | |
| 7 | g.44150006A>C | CA367401614 | GCK | c.*540T>G (n.*540T>G) c.542T>G (p.Val181Gly) n.1028T>G c.545T>G (p.Val182Gly) c.539T>G (p.Val180Gly) c.491T>G (p.Val164Gly) | |
| 7 | g.44150006A>G | CA213800 | GCK | c.*540T>C (n.*540T>C) c.542T>C (p.Val181Ala) n.1028T>C c.545T>C (p.Val182Ala) c.539T>C (p.Val180Ala) c.491T>C (p.Val164Ala) | ClinVar dbSNP |
| 7 | g.44150006A>T | CA367401616 | GCK | c.*540T>A (n.*540T>A) c.542T>A (p.Val181Asp) n.1028T>A c.545T>A (p.Val182Asp) c.539T>A (p.Val180Asp) c.491T>A (p.Val164Asp) | |
| 7 | g.44150007C>A | CA367401618 | GCK | c.*539G>T (n.*539G>T) c.541G>T (p.Val181Phe) n.1027G>T c.544G>T (p.Val182Phe) c.538G>T (p.Val180Phe) c.490G>T (p.Val164Phe) | |
| 7 | g.44150007C>G | CA367401619 | GCK | c.*539G>C (n.*539G>C) c.541G>C (p.Val181Leu) n.1027G>C c.544G>C (p.Val182Leu) c.538G>C (p.Val180Leu) c.490G>C (p.Val164Leu) | |
| 7 | g.44150007C>T | CA367401621 | GCK | c.*539G>A (n.*539G>A) c.541G>A (p.Val181Ile) n.1027G>A c.544G>A (p.Val182Ile) c.538G>A (p.Val180Ile) c.490G>A (p.Val164Ile) | |
| 7 | g.44150008del | CA2695202940 | GCK | c.*538del (n.*538del) c.540del (p.Asn180LysfsTer24) n.1026del c.543del (p.Asn181LysfsTer24) c.537del (p.Asn179LysfsTer24) c.489del (p.Asn163LysfsTer24) | |
| 7 | g.44150008A= | CA1703635978 | GCK | c.*538T= (n.*538T=) c.540T= (p.Asn180=) n.1026T= c.543T= (p.Asn181=) c.537T= (p.Asn179=) c.489T= (p.Asn163=) | |
| 7 | g.44150008A>C | CA367401623 | GCK | c.*538T>G (n.*538T>G) c.540T>G (p.Asn180Lys) n.1026T>G c.543T>G (p.Asn181Lys) c.537T>G (p.Asn179Lys) c.489T>G (p.Asn163Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150008A>G | CA454609470 | GCK | c.*538T>C (n.*538T>C) c.540T>C (p.Asn180=) n.1026T>C c.543T>C (p.Asn181=) c.537T>C (p.Asn179=) c.489T>C (p.Asn163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44150008A>T | CA367401624 | GCK | c.*538T>A (n.*538T>A) c.540T>A (p.Asn180Lys) n.1026T>A c.543T>A (p.Asn181Lys) c.537T>A (p.Asn179Lys) c.489T>A (p.Asn163Lys) | |
| 7 | g.44150009T>A | CA367401625 | GCK | c.*537A>T (n.*537A>T) c.539A>T (p.Asn180Ile) n.1025A>T c.542A>T (p.Asn181Ile) c.536A>T (p.Asn179Ile) c.488A>T (p.Asn163Ile) | |
| 7 | g.44150009T>C | CA367401627 | GCK | c.*537A>G (n.*537A>G) c.539A>G (p.Asn180Ser) n.1025A>G c.542A>G (p.Asn181Ser) c.536A>G (p.Asn179Ser) c.488A>G (p.Asn163Ser) | ClinVar |
| 7 | g.44150009T>G | CA367401628 | GCK | c.*537A>C (n.*537A>C) c.539A>C (p.Asn180Thr) n.1025A>C c.542A>C (p.Asn181Thr) c.536A>C (p.Asn179Thr) c.488A>C (p.Asn163Thr) | |
| 7 | g.44150010T>A | CA367401632 | GCK | c.*536A>T (n.*536A>T) c.538A>T (p.Asn180Tyr) n.1024A>T c.541A>T (p.Asn181Tyr) c.535A>T (p.Asn179Tyr) c.487A>T (p.Asn163Tyr) | |
| 7 | g.44150010T>C | CA367401633 | GCK | c.*536A>G (n.*536A>G) c.538A>G (p.Asn180Asp) n.1024A>G c.541A>G (p.Asn181Asp) c.535A>G (p.Asn179Asp) c.487A>G (p.Asn163Asp) | |
| 7 | g.44150010T>G | CA367401630 | GCK | c.*536A>C (n.*536A>C) c.538A>C (p.Asn180His) n.1024A>C c.541A>C (p.Asn181His) c.535A>C (p.Asn179His) c.487A>C (p.Asn163His) | |
| 7 | g.44150011G>A | CA454609473 | GCK | c.*535C>T (n.*535C>T) c.537C>T (p.Asn179=) n.1023C>T c.540C>T (p.Asn180=) c.534C>T (p.Asn178=) c.486C>T (p.Asn162=) | |
| 7 | g.44150011G>C | CA367401635 | GCK | c.*535C>G (n.*535C>G) c.537C>G (p.Asn179Lys) n.1023C>G c.540C>G (p.Asn180Lys) c.534C>G (p.Asn178Lys) c.486C>G (p.Asn162Lys) | |
| 7 | g.44150011G>T | CA367401634 | GCK | c.*535C>A (n.*535C>A) c.537C>A (p.Asn179Lys) n.1023C>A c.540C>A (p.Asn180Lys) c.534C>A (p.Asn178Lys) c.486C>A (p.Asn162Lys) | |
| 7 | g.44150012T>A | CA367401641 | GCK | c.*534A>T (n.*534A>T) c.536A>T (p.Asn179Ile) n.1022A>T c.539A>T (p.Asn180Ile) c.533A>T (p.Asn178Ile) c.485A>T (p.Asn162Ile) | |
| 7 | g.44150012T>C | CA367401638 | GCK | c.*534A>G (n.*534A>G) c.536A>G (p.Asn179Ser) n.1022A>G c.539A>G (p.Asn180Ser) c.533A>G (p.Asn178Ser) c.485A>G (p.Asn162Ser) | |
| 7 | g.44150012T>G | CA367401639 | GCK | c.*534A>C (n.*534A>C) c.536A>C (p.Asn179Thr) n.1022A>C c.539A>C (p.Asn180Thr) c.533A>C (p.Asn178Thr) c.485A>C (p.Asn162Thr) | |
| 7 | g.44150013_44150020del | CA2695198476 | GCK | c.*527_*534del (n.*527_*534del) c.529_536del (p.Glu177GlnfsTer17) n.1015_1022del c.532_539del (p.Glu178GlnfsTer17) c.526_533del (p.Glu176GlnfsTer17) c.478_485del (p.Glu160GlnfsTer17) | ClinVar |
| 7 | g.44150013T>A | CA367401643 | GCK | c.*533A>T (n.*533A>T) c.535A>T (p.Asn179Tyr) n.1021A>T c.538A>T (p.Asn180Tyr) c.532A>T (p.Asn178Tyr) c.484A>T (p.Asn162Tyr) | |
| 7 | g.44150013T>C | CA367401645 | GCK | c.*533A>G (n.*533A>G) c.535A>G (p.Asn179Asp) n.1021A>G c.538A>G (p.Asn180Asp) c.532A>G (p.Asn178Asp) c.484A>G (p.Asn162Asp) | ClinVar |
| 7 | g.44150013T>G | CA367401647 | GCK | c.*533A>C (n.*533A>C) c.535A>C (p.Asn179His) n.1021A>C c.538A>C (p.Asn180His) c.532A>C (p.Asn178His) c.484A>C (p.Asn162His) | |
| 7 | g.44150014C>A | CA454609475 | GCK | c.*532G>T (n.*532G>T) c.534G>T (p.Gly178=) n.1020G>T c.537G>T (p.Gly179=) c.531G>T (p.Gly177=) c.483G>T (p.Gly161=) | |
| 7 | g.44150014C= | CA1703635979 | GCK | c.*532G= (n.*532G=) c.534G= (p.Gly178=) n.1020G= c.537G= (p.Gly179=) c.531G= (p.Gly177=) c.483G= (p.Gly161=) | |
| 7 | g.44150014C>G | CA454609476 | GCK | c.*532G>C (n.*532G>C) c.534G>C (p.Gly178=) n.1020G>C c.537G>C (p.Gly179=) c.531G>C (p.Gly177=) c.483G>C (p.Gly161=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44150014C>T | CA4239610 | GCK | c.*532G>A (n.*532G>A) c.534G>A (p.Gly178=) n.1020G>A c.537G>A (p.Gly179=) c.531G>A (p.Gly177=) c.483G>A (p.Gly161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44150016del | CA2695202941 | GCK | c.*532del (n.*532del) c.534del (p.Asn179ThrfsTer25) n.1020del c.537del (p.Asn180ThrfsTer25) c.531del (p.Asn178ThrfsTer25) c.483del (p.Asn162ThrfsTer25) | |
| 7 | g.44150015C>A | CA367401649 | GCK | c.*531G>T (n.*531G>T) c.533G>T (p.Gly178Val) n.1019G>T c.536G>T (p.Gly179Val) c.530G>T (p.Gly177Val) c.482G>T (p.Gly161Val) | |
| 7 | g.44150015C= | CA1703635980 | GCK | c.*531G= (n.*531G=) c.533G= (p.Gly178=) n.1019G= c.536G= (p.Gly179=) c.530G= (p.Gly177=) c.482G= (p.Gly161=) | |
| 7 | g.44150015C>G | CA367401650 | GCK | c.*531G>C (n.*531G>C) c.533G>C (p.Gly178Ala) n.1019G>C c.536G>C (p.Gly179Ala) c.530G>C (p.Gly177Ala) c.482G>C (p.Gly161Ala) | |
| 7 | g.44150015C>T | CA10588428 | GCK | c.*531G>A (n.*531G>A) c.533G>A (p.Gly178Glu) n.1019G>A c.536G>A (p.Gly179Glu) c.530G>A (p.Gly177Glu) c.482G>A (p.Gly161Glu) | ClinVar dbSNP COSMIC |
| 7 | g.44150016C>A | CA367401652 | GCK | c.*530G>T (n.*530G>T) c.532G>T (p.Gly178Trp) n.1018G>T c.535G>T (p.Gly179Trp) c.529G>T (p.Gly177Trp) c.481G>T (p.Gly161Trp) | |
| 7 | g.44150016C= | CA1703635981 | GCK | c.*530G= (n.*530G=) c.532G= (p.Gly178=) n.1018G= c.535G= (p.Gly179=) c.529G= (p.Gly177=) c.481G= (p.Gly161=) | |
| 7 | g.44150016C>G | CA367401653 | GCK | c.*530G>C (n.*530G>C) c.532G>C (p.Gly178Arg) n.1018G>C c.535G>C (p.Gly179Arg) c.529G>C (p.Gly177Arg) c.481G>C (p.Gly161Arg) | |
| 7 | g.44150016C>T | CA213798 | GCK | c.*530G>A (n.*530G>A) c.532G>A (p.Gly178Arg) n.1018G>A c.535G>A (p.Gly179Arg) c.529G>A (p.Gly177Arg) c.481G>A (p.Gly161Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150017T>A | CA367401656 | GCK | c.*529A>T (n.*529A>T) c.531A>T (p.Glu177Asp) n.1017A>T c.534A>T (p.Glu178Asp) c.528A>T (p.Glu176Asp) c.480A>T (p.Glu160Asp) | |
| 7 | g.44150017T>C | CA454609480 | GCK | c.*529A>G (n.*529A>G) c.531A>G (p.Glu177=) n.1017A>G c.534A>G (p.Glu178=) c.528A>G (p.Glu176=) c.480A>G (p.Glu160=) | |
| 7 | g.44150017T>G | CA367401655 | GCK | c.*529A>C (n.*529A>C) c.531A>C (p.Glu177Asp) n.1017A>C c.534A>C (p.Glu178Asp) c.528A>C (p.Glu176Asp) c.480A>C (p.Glu160Asp) | ClinVar |
| 7 | g.44150018T>A | CA367401658 | GCK | c.*528A>T (n.*528A>T) c.530A>T (p.Glu177Val) n.1016A>T c.533A>T (p.Glu178Val) c.527A>T (p.Glu176Val) c.479A>T (p.Glu160Val) | |
| 7 | g.44150018T>C | CA367401662 | GCK | c.*528A>G (n.*528A>G) c.530A>G (p.Glu177Gly) n.1016A>G c.533A>G (p.Glu178Gly) c.527A>G (p.Glu176Gly) c.479A>G (p.Glu160Gly) | |
| 7 | g.44150018T>G | CA367401664 | GCK | c.*528A>C (n.*528A>C) c.530A>C (p.Glu177Ala) n.1016A>C c.533A>C (p.Glu178Ala) c.527A>C (p.Glu176Ala) c.479A>C (p.Glu160Ala) | |
| 7 | g.44150018_44150019delinsAA | CA1139660058 | GCK | c.*527_*528delinsTT (n.*527_*528delinsTT) c.529_530delinsTT (p.Glu177Leu) n.1015_1016delinsTT c.532_533delinsTT (p.Glu178Leu) c.526_527delinsTT (p.Glu176Leu) c.478_479delinsTT (p.Glu160Leu) | ClinVar dbSNP |
| 7 | g.44150018_44150019delinsTC | CA1703635982 | GCK | c.*527_*528delinsGA (n.*527_*528delinsGA) c.529_530delinsGA (p.Glu177=) n.1015_1016delinsGA c.532_533delinsGA (p.Glu178=) c.526_527delinsGA (p.Glu176=) c.478_479delinsGA (p.Glu160=) |