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.44151007_44151008delinsAG | CA2695202965 | GCK | c.*429_*430delinsCT (n.*429_*430delinsCT) c.431_432delinsCT (p.Leu144Pro) n.917_918delinsCT c.434_435delinsCT (p.Leu145Pro) c.428_429delinsCT (p.Leu143Pro) c.380_381delinsCT (p.Leu127Pro) | ClinVar |
| 7 | g.44151007_44151008delinsCA | CA1703636461 | GCK | c.*429_*430delinsTG (n.*429_*430delinsTG) c.431_432delinsTG (p.Leu144=) n.917_918delinsTG c.434_435delinsTG (p.Leu145=) c.428_429delinsTG (p.Leu143=) c.380_381delinsTG (p.Leu127=) | |
| 7 | g.44151008del | CA16618470 | GCK | c.*429del (n.*429del) c.431del (p.Leu144ArgfsTer11) n.917del c.434del (p.Leu145ArgfsTer11) c.428del (p.Leu143ArgfsTer11) c.380del (p.Leu127ArgfsTer11) | ClinVar dbSNP |
| 7 | g.44151008A= | CA1703636463 | GCK | c.*429T= (n.*429T=) c.431T= (p.Leu144=) n.917T= c.434T= (p.Leu145=) c.428T= (p.Leu143=) c.380T= (p.Leu127=) | |
| 7 | g.44151008A>C | CA367401993 | GCK | c.*429T>G (n.*429T>G) c.431T>G (p.Leu144Arg) n.917T>G c.434T>G (p.Leu145Arg) c.428T>G (p.Leu143Arg) c.380T>G (p.Leu127Arg) | |
| 7 | g.44151008A>G | CA367401995 | GCK | c.*429T>C (n.*429T>C) c.431T>C (p.Leu144Pro) n.917T>C c.434T>C (p.Leu145Pro) c.428T>C (p.Leu143Pro) c.380T>C (p.Leu127Pro) | ClinVar dbSNP |
| 7 | g.44151008A>T | CA367401997 | GCK | c.*429T>A (n.*429T>A) c.431T>A (p.Leu144Gln) n.917T>A c.434T>A (p.Leu145Gln) c.428T>A (p.Leu143Gln) c.380T>A (p.Leu127Gln) | |
| 7 | g.44151009G>A | CA454609819 | GCK | c.*428C>T (n.*428C>T) c.430C>T (p.Leu144=) n.916C>T c.433C>T (p.Leu145=) c.427C>T (p.Leu143=) c.379C>T (p.Leu127=) | COSMIC COSMIC COSMIC |
| 7 | g.44151009G>C | CA367401998 | GCK | c.*428C>G (n.*428C>G) c.430C>G (p.Leu144Val) n.916C>G c.433C>G (p.Leu145Val) c.427C>G (p.Leu143Val) c.379C>G (p.Leu127Val) | ClinVar |
| 7 | g.44151009G>T | CA367402000 | GCK | c.*428C>A (n.*428C>A) c.430C>A (p.Leu144Met) n.916C>A c.433C>A (p.Leu145Met) c.427C>A (p.Leu143Met) c.379C>A (p.Leu127Met) | |
| 7 | g.44151010C>A | CA367402001 | GCK | c.*427G>T (n.*427G>T) c.429G>T (p.Lys143Asn) n.915G>T c.432G>T (p.Lys144Asn) c.426G>T (p.Lys142Asn) c.378G>T (p.Lys126Asn) | gnomAD v4 |
| 7 | g.44151010C= | CA1703636464 | GCK | c.*427G= (n.*427G=) c.429G= (p.Lys143=) n.915G= c.432G= (p.Lys144=) c.426G= (p.Lys142=) c.378G= (p.Lys126=) | |
| 7 | g.44151010C>G | CA367402002 | GCK | c.*427G>C (n.*427G>C) c.429G>C (p.Lys143Asn) n.915G>C c.432G>C (p.Lys144Asn) c.426G>C (p.Lys142Asn) c.378G>C (p.Lys126Asn) | |
| 7 | g.44151010C>T | CA454609820 | GCK | c.*427G>A (n.*427G>A) c.429G>A (p.Lys143=) n.915G>A c.432G>A (p.Lys144=) c.426G>A (p.Lys142=) c.378G>A (p.Lys126=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151013_44151015del | CA2695202966 | GCK | c.*425_*427del (n.*425_*427del) c.427_429del (p.Lys143del) n.913_915del c.430_432del (p.Lys144del) c.424_426del (p.Lys142del) c.376_378del (p.Lys126del) | |
| 7 | g.44151011T>A | CA367402004 | GCK | c.*426A>T (n.*426A>T) c.428A>T (p.Lys143Met) n.914A>T c.431A>T (p.Lys144Met) c.425A>T (p.Lys142Met) c.377A>T (p.Lys126Met) | |
| 7 | g.44151011T>C | CA367402006 | GCK | c.*426A>G (n.*426A>G) c.428A>G (p.Lys143Arg) n.914A>G c.431A>G (p.Lys144Arg) c.425A>G (p.Lys142Arg) c.377A>G (p.Lys126Arg) | |
| 7 | g.44151011T>G | CA367402007 | GCK | c.*426A>C (n.*426A>C) c.428A>C (p.Lys143Thr) n.914A>C c.431A>C (p.Lys144Thr) c.425A>C (p.Lys142Thr) c.377A>C (p.Lys126Thr) | |
| 7 | g.44151011_44151012delinsAG | CA658655971 | GCK | c.*425_*426delinsCT (n.*425_*426delinsCT) c.427_428delinsCT (p.Lys143Leu) n.913_914delinsCT c.430_431delinsCT (p.Lys144Leu) c.424_425delinsCT (p.Lys142Leu) c.376_377delinsCT (p.Lys126Leu) | ClinVar dbSNP |
| 7 | g.44151011_44151012delinsTT | CA1703636465 | GCK | c.*425_*426delinsAA (n.*425_*426delinsAA) c.427_428delinsAA (p.Lys143=) n.913_914delinsAA c.430_431delinsAA (p.Lys144=) c.424_425delinsAA (p.Lys142=) c.376_377delinsAA (p.Lys126=) | |
| 7 | g.44151012T>A | CA367402011 | GCK | c.*425A>T (n.*425A>T) c.427A>T (p.Lys143Ter) n.913A>T c.430A>T (p.Lys144Ter) c.424A>T (p.Lys142Ter) c.376A>T (p.Lys126Ter) | |
| 7 | g.44151012T>C | CA367402010 | GCK | c.*425A>G (n.*425A>G) c.427A>G (p.Lys143Glu) n.913A>G c.430A>G (p.Lys144Glu) c.424A>G (p.Lys142Glu) c.376A>G (p.Lys126Glu) | |
| 7 | g.44151012T>G | CA367402009 | GCK | c.*425A>C (n.*425A>C) c.427A>C (p.Lys143Gln) n.913A>C c.430A>C (p.Lys144Gln) c.424A>C (p.Lys142Gln) c.376A>C (p.Lys126Gln) | |
| 7 | g.44151013C>A | CA367402013 | GCK | c.*424G>T (n.*424G>T) c.426G>T (p.Lys142Asn) n.912G>T c.429G>T (p.Lys143Asn) c.423G>T (p.Lys141Asn) c.375G>T (p.Lys125Asn) | |
| 7 | g.44151013C>G | CA367402015 | GCK | c.*424G>C (n.*424G>C) c.426G>C (p.Lys142Asn) n.912G>C c.429G>C (p.Lys143Asn) c.423G>C (p.Lys141Asn) c.375G>C (p.Lys125Asn) | |
| 7 | g.44151013C>T | CA454609822 | GCK | c.*424G>A (n.*424G>A) c.426G>A (p.Lys142=) n.912G>A c.429G>A (p.Lys143=) c.423G>A (p.Lys141=) c.375G>A (p.Lys125=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151014T>A | CA367402016 | GCK | c.*423A>T (n.*423A>T) c.425A>T (p.Lys142Met) n.911A>T c.428A>T (p.Lys143Met) c.422A>T (p.Lys141Met) c.374A>T (p.Lys125Met) | |
| 7 | g.44151014T>C | CA367402018 | GCK | c.*423A>G (n.*423A>G) c.425A>G (p.Lys142Arg) n.911A>G c.428A>G (p.Lys143Arg) c.422A>G (p.Lys141Arg) c.374A>G (p.Lys125Arg) | |
| 7 | g.44151014T>G | CA367402019 | GCK | c.*423A>C (n.*423A>C) c.425A>C (p.Lys142Thr) n.911A>C c.428A>C (p.Lys143Thr) c.422A>C (p.Lys141Thr) c.374A>C (p.Lys125Thr) | |
| 7 | g.44151015T>A | CA367402020 | GCK | c.*422A>T (n.*422A>T) c.424A>T (p.Lys142Ter) n.910A>T c.427A>T (p.Lys143Ter) c.421A>T (p.Lys141Ter) c.373A>T (p.Lys125Ter) | |
| 7 | g.44151015T>C | CA367402021 | GCK | c.*422A>G (n.*422A>G) c.424A>G (p.Lys142Glu) n.910A>G c.427A>G (p.Lys143Glu) c.421A>G (p.Lys141Glu) c.373A>G (p.Lys125Glu) | |
| 7 | g.44151015T>G | CA367402022 | GCK | c.*422A>C (n.*422A>C) c.424A>C (p.Lys142Gln) n.910A>C c.427A>C (p.Lys143Gln) c.421A>C (p.Lys141Gln) c.373A>C (p.Lys125Gln) | |
| 7 | g.44151018_44151019del | CA2695202967 | GCK | c.*421_*422del (n.*421_*422del) c.423_424del (p.His141GlnfsTer20) n.909_910del c.426_427del (p.His142GlnfsTer20) c.420_421del (p.His140GlnfsTer20) c.372_373del (p.His124GlnfsTer20) | |
| 7 | g.44151016del | CA2695202968 | GCK | c.*421del (n.*421del) c.423del (p.His141GlnfsTer14) n.909del c.426del (p.His142GlnfsTer14) c.420del (p.His140GlnfsTer14) c.372del (p.His124GlnfsTer14) | |
| 7 | g.44151016G>A | CA454609827 | GCK | c.*421C>T (n.*421C>T) c.423C>T (p.His141=) n.909C>T c.426C>T (p.His142=) c.420C>T (p.His140=) c.372C>T (p.His124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151016G>C | CA367402023 | GCK | c.*421C>G (n.*421C>G) c.423C>G (p.His141Gln) n.909C>G c.426C>G (p.His142Gln) c.420C>G (p.His140Gln) c.372C>G (p.His124Gln) | |
| 7 | g.44151016G= | CA1703636466 | GCK | c.*421C= (n.*421C=) c.423C= (p.His141=) n.909C= c.426C= (p.His142=) c.420C= (p.His140=) c.372C= (p.His124=) | |
| 7 | g.44151016G>T | CA367402025 | GCK | c.*421C>A (n.*421C>A) c.423C>A (p.His141Gln) n.909C>A c.426C>A (p.His142Gln) c.420C>A (p.His140Gln) c.372C>A (p.His124Gln) | ClinVar dbSNP |
| 7 | g.44151017T>A | CA367402027 | GCK | c.*420A>T (n.*420A>T) c.422A>T (p.His141Leu) n.908A>T c.425A>T (p.His142Leu) c.419A>T (p.His140Leu) c.371A>T (p.His124Leu) | |
| 7 | g.44151017T>C | CA367402028 | GCK | c.*420A>G (n.*420A>G) c.422A>G (p.His141Arg) n.908A>G c.425A>G (p.His142Arg) c.419A>G (p.His140Arg) c.371A>G (p.His124Arg) | gnomAD v4 COSMIC COSMIC |
| 7 | g.44151017T>G | CA367402030 | GCK | c.*420A>C (n.*420A>C) c.422A>C (p.His141Pro) n.908A>C c.425A>C (p.His142Pro) c.419A>C (p.His140Pro) c.371A>C (p.His124Pro) | ClinVar dbSNP |
| 7 | g.44151018G>A | CA367402032 | GCK | c.*419C>T (n.*419C>T) c.421C>T (p.His141Tyr) n.907C>T c.424C>T (p.His142Tyr) c.418C>T (p.His140Tyr) c.370C>T (p.His124Tyr) | |
| 7 | g.44151018G>C | CA367402034 | GCK | c.*419C>G (n.*419C>G) c.421C>G (p.His141Asp) n.907C>G c.424C>G (p.His142Asp) c.418C>G (p.His140Asp) c.370C>G (p.His124Asp) | |
| 7 | g.44151018G>T | CA367402031 | GCK | c.*419C>A (n.*419C>A) c.421C>A (p.His141Asn) n.907C>A c.424C>A (p.His142Asn) c.418C>A (p.His140Asn) c.370C>A (p.His124Asn) | |
| 7 | g.44151019T>A | CA367402035 | GCK | c.*418A>T (n.*418A>T) c.420A>T (p.Lys140Asn) n.906A>T c.423A>T (p.Lys141Asn) c.417A>T (p.Lys139Asn) c.369A>T (p.Lys123Asn) | |
| 7 | g.44151019T>C | CA454609830 | GCK | c.*418A>G (n.*418A>G) c.420A>G (p.Lys140=) n.906A>G c.423A>G (p.Lys141=) c.417A>G (p.Lys139=) c.369A>G (p.Lys123=) | dbSNP |
| 7 | g.44151019T>G | CA367402037 | GCK | c.*418A>C (n.*418A>C) c.420A>C (p.Lys140Asn) n.906A>C c.423A>C (p.Lys141Asn) c.417A>C (p.Lys139Asn) c.369A>C (p.Lys123Asn) | |
| 7 | g.44151020T>A | CA367402038 | GCK | c.*417A>T (n.*417A>T) c.419A>T (p.Lys140Ile) n.905A>T c.422A>T (p.Lys141Ile) c.416A>T (p.Lys139Ile) c.368A>T (p.Lys123Ile) | |
| 7 | g.44151020T>C | CA367402040 | GCK | c.*417A>G (n.*417A>G) c.419A>G (p.Lys140Arg) n.905A>G c.422A>G (p.Lys141Arg) c.416A>G (p.Lys139Arg) c.368A>G (p.Lys123Arg) |