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.44149788G>A | CA454609015 | GCK | c.*649C>T (n.*649C>T) c.651C>T (p.Asp217=) n.1137C>T c.654C>T (p.Asp218=) c.648C>T (p.Asp216=) c.600C>T (p.Asp200=) | |
| 7 | g.44149788G>C | CA367401222 | GCK | c.*649C>G (n.*649C>G) c.651C>G (p.Asp217Glu) n.1137C>G c.654C>G (p.Asp218Glu) c.648C>G (p.Asp216Glu) c.600C>G (p.Asp200Glu) | |
| 7 | g.44149788G>T | CA367401223 | GCK | c.*649C>A (n.*649C>A) c.651C>A (p.Asp217Glu) n.1137C>A c.654C>A (p.Asp218Glu) c.648C>A (p.Asp216Glu) c.600C>A (p.Asp200Glu) | |
| 7 | g.44149789T>A | CA367401225 | GCK | c.*648A>T (n.*648A>T) c.650A>T (p.Asp217Val) n.1136A>T c.653A>T (p.Asp218Val) c.647A>T (p.Asp216Val) c.599A>T (p.Asp200Val) | |
| 7 | g.44149789T>C | CA367401226 | GCK | c.*648A>G (n.*648A>G) c.650A>G (p.Asp217Gly) n.1136A>G c.653A>G (p.Asp218Gly) c.647A>G (p.Asp216Gly) c.599A>G (p.Asp200Gly) | |
| 7 | g.44149789T>G | CA367401227 | GCK | c.*648A>C (n.*648A>C) c.650A>C (p.Asp217Ala) n.1136A>C c.653A>C (p.Asp218Ala) c.647A>C (p.Asp216Ala) c.599A>C (p.Asp200Ala) | |
| 7 | g.44149790C>A | CA367401228 | GCK | c.*647G>T (n.*647G>T) c.649G>T (p.Asp217Tyr) n.1135G>T c.652G>T (p.Asp218Tyr) c.646G>T (p.Asp216Tyr) c.598G>T (p.Asp200Tyr) | |
| 7 | g.44149790C= | CA1703635862 | GCK | c.*647G= (n.*647G=) c.649G= (p.Asp217=) n.1135G= c.652G= (p.Asp218=) c.646G= (p.Asp216=) c.598G= (p.Asp200=) | |
| 7 | g.44149790C>G | CA367401229 | GCK | c.*647G>C (n.*647G>C) c.649G>C (p.Asp217His) n.1135G>C c.652G>C (p.Asp218His) c.646G>C (p.Asp216His) c.598G>C (p.Asp200His) | |
| 7 | g.44149790C>T | CA4239564 | GCK | c.*647G>A (n.*647G>A) c.649G>A (p.Asp217Asn) n.1135G>A c.652G>A (p.Asp218Asn) c.646G>A (p.Asp216Asn) c.598G>A (p.Asp200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149791T>A | CA367401230 | GCK | c.*646A>T (n.*646A>T) c.648A>T (p.Glu216Asp) n.1134A>T c.651A>T (p.Glu217Asp) c.645A>T (p.Glu215Asp) c.597A>T (p.Glu199Asp) | |
| 7 | g.44149791T>C | CA454609024 | GCK | c.*646A>G (n.*646A>G) c.648A>G (p.Glu216=) n.1134A>G c.651A>G (p.Glu217=) c.645A>G (p.Glu215=) c.597A>G (p.Glu199=) | |
| 7 | g.44149791T>G | CA367401232 | GCK | c.*646A>C (n.*646A>C) c.648A>C (p.Glu216Asp) n.1134A>C c.651A>C (p.Glu217Asp) c.645A>C (p.Glu215Asp) c.597A>C (p.Glu199Asp) | |
| 7 | g.44149792T>A | CA367401237 | GCK | c.*645A>T (n.*645A>T) c.647A>T (p.Glu216Val) n.1133A>T c.650A>T (p.Glu217Val) c.644A>T (p.Glu215Val) c.596A>T (p.Glu199Val) | |
| 7 | g.44149792T>C | CA367401236 | GCK | c.*645A>G (n.*645A>G) c.647A>G (p.Glu216Gly) n.1133A>G c.650A>G (p.Glu217Gly) c.644A>G (p.Glu215Gly) c.596A>G (p.Glu199Gly) | gnomAD v4 |
| 7 | g.44149792T>G | CA367401234 | GCK | c.*645A>C (n.*645A>C) c.647A>C (p.Glu216Ala) n.1133A>C c.650A>C (p.Glu217Ala) c.644A>C (p.Glu215Ala) c.596A>C (p.Glu199Ala) | |
| 7 | g.44149793C>A | CA367401239 | GCK | c.*644G>T (n.*644G>T) c.646G>T (p.Glu216Ter) n.1132G>T c.649G>T (p.Glu217Ter) c.643G>T (p.Glu215Ter) c.595G>T (p.Glu199Ter) | |
| 7 | g.44149793C= | CA1703635863 | GCK | c.*644G= (n.*644G=) c.646G= (p.Glu216=) n.1132G= c.649G= (p.Glu217=) c.643G= (p.Glu215=) c.595G= (p.Glu199=) | |
| 7 | g.44149793C>G | CA367401241 | GCK | c.*644G>C (n.*644G>C) c.646G>C (p.Glu216Gln) n.1132G>C c.649G>C (p.Glu217Gln) c.643G>C (p.Glu215Gln) c.595G>C (p.Glu199Gln) | gnomAD v4 |
| 7 | g.44149793C>T | CA4239565 | GCK | c.*644G>A (n.*644G>A) c.646G>A (p.Glu216Lys) n.1132G>A c.649G>A (p.Glu217Lys) c.643G>A (p.Glu215Lys) c.595G>A (p.Glu199Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149794G>A | CA4239566 | GCK | c.*643C>T (n.*643C>T) c.645C>T (p.Tyr215=) n.1131C>T c.648C>T (p.Tyr216=) c.642C>T (p.Tyr214=) c.594C>T (p.Tyr198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44149794G>C | CA213818 | GCK | c.*643C>G (n.*643C>G) c.645C>G (p.Tyr215Ter) n.1131C>G c.648C>G (p.Tyr216Ter) c.642C>G (p.Tyr214Ter) c.594C>G (p.Tyr198Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149794G= | CA1703635864 | GCK | c.*643C= (n.*643C=) c.645C= (p.Tyr215=) n.1131C= c.648C= (p.Tyr216=) c.642C= (p.Tyr214=) c.594C= (p.Tyr198=) | |
| 7 | g.44149794G>T | CA367401243 | GCK | c.*643C>A (n.*643C>A) c.645C>A (p.Tyr215Ter) n.1131C>A c.648C>A (p.Tyr216Ter) c.642C>A (p.Tyr214Ter) c.594C>A (p.Tyr198Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149795T>A | CA367401245 | GCK | c.*642A>T (n.*642A>T) c.644A>T (p.Tyr215Phe) n.1130A>T c.647A>T (p.Tyr216Phe) c.641A>T (p.Tyr214Phe) c.593A>T (p.Tyr198Phe) | COSMIC COSMIC COSMIC |
| 7 | g.44149795T>C | CA367401247 | GCK | c.*642A>G (n.*642A>G) c.644A>G (p.Tyr215Cys) n.1130A>G c.647A>G (p.Tyr216Cys) c.641A>G (p.Tyr214Cys) c.593A>G (p.Tyr198Cys) | |
| 7 | g.44149795T>G | CA367401248 | GCK | c.*642A>C (n.*642A>C) c.644A>C (p.Tyr215Ser) n.1130A>C c.647A>C (p.Tyr216Ser) c.641A>C (p.Tyr214Ser) c.593A>C (p.Tyr198Ser) | |
| 7 | g.44149796A>C | CA367401250 | GCK | c.*641T>G (n.*641T>G) c.643T>G (p.Tyr215Asp) n.1129T>G c.646T>G (p.Tyr216Asp) c.640T>G (p.Tyr214Asp) c.592T>G (p.Tyr198Asp) | |
| 7 | g.44149796A>G | CA367401251 | GCK | c.*641T>C (n.*641T>C) c.643T>C (p.Tyr215His) n.1129T>C c.646T>C (p.Tyr216His) c.640T>C (p.Tyr214His) c.592T>C (p.Tyr198His) | |
| 7 | g.44149796A>T | CA367401253 | GCK | c.*641T>A (n.*641T>A) c.643T>A (p.Tyr215Asn) n.1129T>A c.646T>A (p.Tyr216Asn) c.640T>A (p.Tyr214Asn) c.592T>A (p.Tyr198Asn) | |
| 7 | g.44149797G>A | CA454609042 | GCK | c.*640C>T (n.*640C>T) c.642C>T (p.Tyr214=) n.1128C>T c.645C>T (p.Tyr215=) c.639C>T (p.Tyr213=) c.591C>T (p.Tyr197=) | |
| 7 | g.44149797G>C | CA367401254 | GCK | c.*640C>G (n.*640C>G) c.642C>G (p.Tyr214Ter) n.1128C>G c.645C>G (p.Tyr215Ter) c.639C>G (p.Tyr213Ter) c.591C>G (p.Tyr197Ter) | |
| 7 | g.44149797G>T | CA367401256 | GCK | c.*640C>A (n.*640C>A) c.642C>A (p.Tyr214Ter) n.1128C>A c.645C>A (p.Tyr215Ter) c.639C>A (p.Tyr213Ter) c.591C>A (p.Tyr197Ter) | |
| 7 | g.44149798T>A | CA367401259 | GCK | c.*639A>T (n.*639A>T) c.641A>T (p.Tyr214Phe) n.1127A>T c.644A>T (p.Tyr215Phe) c.638A>T (p.Tyr213Phe) c.590A>T (p.Tyr197Phe) | |
| 7 | g.44149798T>C | CA257435 | GCK | c.*639A>G (n.*639A>G) c.641A>G (p.Tyr214Cys) n.1127A>G c.644A>G (p.Tyr215Cys) c.638A>G (p.Tyr213Cys) c.590A>G (p.Tyr197Cys) | ClinVar dbSNP |
| 7 | g.44149798T>G | CA367401257 | GCK | c.*639A>C (n.*639A>C) c.641A>C (p.Tyr214Ser) n.1127A>C c.644A>C (p.Tyr215Ser) c.638A>C (p.Tyr213Ser) c.590A>C (p.Tyr197Ser) | |
| 7 | g.44149798T= | CA1703635865 | GCK | c.*639A= (n.*639A=) c.641A= (p.Tyr214=) n.1127A= c.644A= (p.Tyr215=) c.638A= (p.Tyr213=) c.590A= (p.Tyr197=) | |
| 7 | g.44149798dup | CA1139532770 | GCK | c.*639dup (n.*639dup) c.641dup (p.Tyr214Ter) n.1127dup c.644dup (p.Tyr215Ter) c.638dup (p.Tyr213Ter) c.590dup (p.Tyr197Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149798_44149801delinsTAGC | CA1703635866 | GCK | c.*636_*639delinsGCTA (n.*636_*639delinsGCTA) c.638_641delinsGCTA (p.Cys213=) n.1124_1127delinsGCTA c.641_644delinsGCTA (p.Cys214=) c.635_638delinsGCTA (p.Cys212=) c.587_590delinsGCTA (p.Cys196=) | |
| 7 | g.44149799A>C | CA367401261 | GCK | c.*638T>G (n.*638T>G) c.640T>G (p.Tyr214Asp) n.1126T>G c.643T>G (p.Tyr215Asp) c.637T>G (p.Tyr213Asp) c.589T>G (p.Tyr197Asp) | |
| 7 | g.44149799A>G | CA367401262 | GCK | c.*638T>C (n.*638T>C) c.640T>C (p.Tyr214His) n.1126T>C c.643T>C (p.Tyr215His) c.637T>C (p.Tyr213His) c.589T>C (p.Tyr197His) | |
| 7 | g.44149799A>T | CA367401263 | GCK | c.*638T>A (n.*638T>A) c.640T>A (p.Tyr214Asn) n.1126T>A c.643T>A (p.Tyr215Asn) c.637T>A (p.Tyr213Asn) c.589T>A (p.Tyr197Asn) | |
| 7 | g.44149801_44149803del | CA915944919 | GCK | c.*636_*638del (n.*636_*638del) c.638_640del (p.Cys213del) n.1124_1126del c.641_643del (p.Cys214del) c.635_637del (p.Cys212del) c.587_589del (p.Cys196del) | ClinVar dbSNP |
| 7 | g.44149800G>A | CA454609051 | GCK | c.*637C>T (n.*637C>T) c.639C>T (p.Cys213=) n.1125C>T c.642C>T (p.Cys214=) c.636C>T (p.Cys212=) c.588C>T (p.Cys196=) | dbSNP gnomAD v4 |
| 7 | g.44149800G>C | CA367401265 | GCK | c.*637C>G (n.*637C>G) c.639C>G (p.Cys213Trp) n.1125C>G c.642C>G (p.Cys214Trp) c.636C>G (p.Cys212Trp) c.588C>G (p.Cys196Trp) | |
| 7 | g.44149800G= | CA1703635867 | GCK | c.*637C= (n.*637C=) c.639C= (p.Cys213=) n.1125C= c.642C= (p.Cys214=) c.636C= (p.Cys212=) c.588C= (p.Cys196=) | |
| 7 | g.44149800G>T | CA367401266 | GCK | c.*637C>A (n.*637C>A) c.639C>A (p.Cys213Ter) n.1125C>A c.642C>A (p.Cys214Ter) c.636C>A (p.Cys212Ter) c.588C>A (p.Cys196Ter) | |
| 7 | g.44149801C>A | CA367401268 | GCK | c.*636G>T (n.*636G>T) c.638G>T (p.Cys213Phe) n.1124G>T c.641G>T (p.Cys214Phe) c.635G>T (p.Cys212Phe) c.587G>T (p.Cys196Phe) | |
| 7 | g.44149801C>G | CA367401269 | GCK | c.*636G>C (n.*636G>C) c.638G>C (p.Cys213Ser) n.1124G>C c.641G>C (p.Cys214Ser) c.635G>C (p.Cys212Ser) c.587G>C (p.Cys196Ser) |