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.44149782C>A | CA367401199 | GCK | c.*655G>T (n.*655G>T) c.657G>T (p.Gln219His) n.1143G>T c.660G>T (p.Gln220His) c.654G>T (p.Gln218His) c.606G>T (p.Gln202His) | |
| 7 | g.44149782C>G | CA367401200 | GCK | c.*655G>C (n.*655G>C) c.657G>C (p.Gln219His) n.1143G>C c.660G>C (p.Gln220His) c.654G>C (p.Gln218His) c.606G>C (p.Gln202His) | |
| 7 | g.44149782C>T | CA454608998 | GCK | c.*655G>A (n.*655G>A) c.657G>A (p.Gln219=) n.1143G>A c.660G>A (p.Gln220=) c.654G>A (p.Gln218=) c.606G>A (p.Gln202=) | ClinVar |
| 7 | g.44149783del | CA2580077182 | GCK | c.*654del (n.*654del) c.656del (p.Gln219ArgfsTer6) n.1142del c.659del (p.Gln220ArgfsTer6) c.653del (p.Gln218ArgfsTer6) c.605del (p.Gln202ArgfsTer6) | ClinVar |
| 7 | g.44149783T>A | CA367401201 | GCK | c.*654A>T (n.*654A>T) c.656A>T (p.Gln219Leu) n.1142A>T c.659A>T (p.Gln220Leu) c.653A>T (p.Gln218Leu) c.605A>T (p.Gln202Leu) | |
| 7 | g.44149783T>C | CA367401203 | GCK | c.*654A>G (n.*654A>G) c.656A>G (p.Gln219Arg) n.1142A>G c.659A>G (p.Gln220Arg) c.653A>G (p.Gln218Arg) c.605A>G (p.Gln202Arg) | gnomAD v4 |
| 7 | g.44149783T>G | CA367401204 | GCK | c.*654A>C (n.*654A>C) c.656A>C (p.Gln219Pro) n.1142A>C c.659A>C (p.Gln220Pro) c.653A>C (p.Gln218Pro) c.605A>C (p.Gln202Pro) | |
| 7 | g.44149784G>A | CA157917224 | GCK | c.*653C>T (n.*653C>T) c.655C>T (p.Gln219Ter) n.1141C>T c.658C>T (p.Gln220Ter) c.652C>T (p.Gln218Ter) c.604C>T (p.Gln202Ter) | dbSNP |
| 7 | g.44149784G>C | CA367401207 | GCK | c.*653C>G (n.*653C>G) c.655C>G (p.Gln219Glu) n.1141C>G c.658C>G (p.Gln220Glu) c.652C>G (p.Gln218Glu) c.604C>G (p.Gln202Glu) | |
| 7 | g.44149784G= | CA1703635861 | GCK | c.*653C= (n.*653C=) c.655C= (p.Gln219=) n.1141C= c.658C= (p.Gln220=) c.652C= (p.Gln218=) c.604C= (p.Gln202=) | |
| 7 | g.44149784G>T | CA367401208 | GCK | c.*653C>A (n.*653C>A) c.655C>A (p.Gln219Lys) n.1141C>A c.658C>A (p.Gln220Lys) c.652C>A (p.Gln218Lys) c.604C>A (p.Gln202Lys) | |
| 7 | g.44149785A>C | CA367401210 | GCK | c.*652T>G (n.*652T>G) c.654T>G (p.His218Gln) n.1140T>G c.657T>G (p.His219Gln) c.651T>G (p.His217Gln) c.603T>G (p.His201Gln) | gnomAD v4 |
| 7 | g.44149785A>G | CA454609008 | GCK | c.*652T>C (n.*652T>C) c.654T>C (p.His218=) n.1140T>C c.657T>C (p.His219=) c.651T>C (p.His217=) c.603T>C (p.His201=) | |
| 7 | g.44149785A>T | CA367401211 | GCK | c.*652T>A (n.*652T>A) c.654T>A (p.His218Gln) n.1140T>A c.657T>A (p.His219Gln) c.651T>A (p.His217Gln) c.603T>A (p.His201Gln) | gnomAD v4 |
| 7 | g.44149786T>A | CA367401214 | GCK | c.*651A>T (n.*651A>T) c.653A>T (p.His218Leu) n.1139A>T c.656A>T (p.His219Leu) c.650A>T (p.His217Leu) c.602A>T (p.His201Leu) | |
| 7 | g.44149786T>C | CA367401216 | GCK | c.*651A>G (n.*651A>G) c.653A>G (p.His218Arg) n.1139A>G c.656A>G (p.His219Arg) c.650A>G (p.His217Arg) c.602A>G (p.His201Arg) | |
| 7 | g.44149786T>G | CA367401213 | GCK | c.*651A>C (n.*651A>C) c.653A>C (p.His218Pro) n.1139A>C c.656A>C (p.His219Pro) c.650A>C (p.His217Pro) c.602A>C (p.His201Pro) | |
| 7 | g.44149787G>A | CA367401218 | GCK | c.*650C>T (n.*650C>T) c.652C>T (p.His218Tyr) n.1138C>T c.655C>T (p.His219Tyr) c.649C>T (p.His217Tyr) c.601C>T (p.His201Tyr) | |
| 7 | g.44149787G>C | CA367401220 | GCK | c.*650C>G (n.*650C>G) c.652C>G (p.His218Asp) n.1138C>G c.655C>G (p.His219Asp) c.649C>G (p.His217Asp) c.601C>G (p.His201Asp) | |
| 7 | g.44149787G>T | CA367401221 | GCK | c.*650C>A (n.*650C>A) c.652C>A (p.His218Asn) n.1138C>A c.655C>A (p.His219Asn) c.649C>A (p.His217Asn) c.601C>A (p.His201Asn) | |
| 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) |