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.44147702_44147809del | CA2695203087 | GCK | c.*707_*814del (n.*707_*814del) c.709_816del (p.Glu237_Glu272del) c.712_819del (p.Glu238_Glu273del) c.706_813del (p.Glu236_Glu271del) c.658_765del (p.Glu220_Glu255del) n.36_82+61del | |
| 7 | g.44147709C>A | CA367400522 | GCK | c.*802G>T (n.*802G>T) c.804G>T (p.Glu268Asp) c.807G>T (p.Glu269Asp) c.801G>T (p.Glu267Asp) c.753G>T (p.Glu251Asp) n.43C>A | dbSNP |
| 7 | g.44147709C= | CA1703634899 | GCK | c.*802G= (n.*802G=) c.804G= (p.Glu268=) c.807G= (p.Glu269=) c.801G= (p.Glu267=) c.753G= (p.Glu251=) n.43C= | |
| 7 | g.44147709C>G | CA367400523 | GCK | c.*802G>C (n.*802G>C) c.804G>C (p.Glu268Asp) c.807G>C (p.Glu269Asp) c.801G>C (p.Glu267Asp) c.753G>C (p.Glu251Asp) n.43C>G | |
| 7 | g.44147709C>T | CA454608654 | GCK | c.*802G>A (n.*802G>A) c.804G>A (p.Glu268=) c.807G>A (p.Glu269=) c.801G>A (p.Glu267=) c.753G>A (p.Glu251=) n.43C>T | gnomAD v4 |
| 7 | g.44147710T>A | CA367400526 | GCK | c.*801A>T (n.*801A>T) c.803A>T (p.Glu268Val) c.806A>T (p.Glu269Val) c.800A>T (p.Glu267Val) c.752A>T (p.Glu251Val) n.44T>A | |
| 7 | g.44147710T>C | CA367400525 | GCK | c.*801A>G (n.*801A>G) c.803A>G (p.Glu268Gly) c.806A>G (p.Glu269Gly) c.800A>G (p.Glu267Gly) c.752A>G (p.Glu251Gly) n.44T>C | |
| 7 | g.44147710T>G | CA367400524 | GCK | c.*801A>C (n.*801A>C) c.803A>C (p.Glu268Ala) c.806A>C (p.Glu269Ala) c.800A>C (p.Glu267Ala) c.752A>C (p.Glu251Ala) n.44T>G | |
| 7 | g.44147711C>A | CA367400527 | GCK | c.*800G>T (n.*800G>T) c.802G>T (p.Glu268Ter) c.805G>T (p.Glu269Ter) c.799G>T (p.Glu267Ter) c.751G>T (p.Glu251Ter) n.45C>A | |
| 7 | g.44147711C= | CA1703634900 | GCK | c.*800G= (n.*800G=) c.802G= (p.Glu268=) c.805G= (p.Glu269=) c.799G= (p.Glu267=) c.751G= (p.Glu251=) n.45C= | |
| 7 | g.44147711C>G | CA367400528 | GCK | c.*800G>C (n.*800G>C) c.802G>C (p.Glu268Gln) c.805G>C (p.Glu269Gln) c.799G>C (p.Glu267Gln) c.751G>C (p.Glu251Gln) n.45C>G | |
| 7 | g.44147711C>T | CA367400529 | GCK | c.*800G>A (n.*800G>A) c.802G>A (p.Glu268Lys) c.805G>A (p.Glu269Lys) c.799G>A (p.Glu267Lys) c.751G>A (p.Glu251Lys) n.45C>T | ClinVar dbSNP |
| 7 | g.44147712G>A | CA4239521 | GCK | c.*799C>T (n.*799C>T) c.801C>T (p.Asp267=) c.804C>T (p.Asp268=) c.798C>T (p.Asp266=) c.750C>T (p.Asp250=) n.46G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147712G>C | CA367400530 | GCK | c.*799C>G (n.*799C>G) c.801C>G (p.Asp267Glu) c.804C>G (p.Asp268Glu) c.798C>G (p.Asp266Glu) c.750C>G (p.Asp250Glu) n.46G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147712G= | CA1703634901 | GCK | c.*799C= (n.*799C=) c.801C= (p.Asp267=) c.804C= (p.Asp268=) c.798C= (p.Asp266=) c.750C= (p.Asp250=) n.46G= | |
| 7 | g.44147712G>T | CA367400531 | GCK | c.*799C>A (n.*799C>A) c.801C>A (p.Asp267Glu) c.804C>A (p.Asp268Glu) c.798C>A (p.Asp266Glu) c.750C>A (p.Asp250Glu) n.46G>T | gnomAD v4 |
| 7 | g.44147716_44147730del | CA2695203089 | GCK | c.*785_*799del (n.*785_*799del) c.787_801del (p.Ser263_Asp267del) c.790_804del (p.Ser264_Asp268del) c.784_798del (p.Ser262_Asp266del) c.736_750del (p.Ser246_Asp250del) n.50_64del | |
| 7 | g.44147713T>A | CA367400532 | GCK | c.*798A>T (n.*798A>T) c.800A>T (p.Asp267Val) c.803A>T (p.Asp268Val) c.797A>T (p.Asp266Val) c.749A>T (p.Asp250Val) n.47T>A | |
| 7 | g.44147713T>C | CA367400534 | GCK | c.*798A>G (n.*798A>G) c.800A>G (p.Asp267Gly) c.803A>G (p.Asp268Gly) c.797A>G (p.Asp266Gly) c.749A>G (p.Asp250Gly) n.47T>C | gnomAD v4 |
| 7 | g.44147713T>G | CA367400533 | GCK | c.*798A>C (n.*798A>C) c.800A>C (p.Asp267Ala) c.803A>C (p.Asp268Ala) c.797A>C (p.Asp266Ala) c.749A>C (p.Asp250Ala) n.47T>G | |
| 7 | g.44147714C>A | CA367400535 | GCK | c.*797G>T (n.*797G>T) c.799G>T (p.Asp267Tyr) c.802G>T (p.Asp268Tyr) c.796G>T (p.Asp266Tyr) c.748G>T (p.Asp250Tyr) n.48C>A | |
| 7 | g.44147714C>G | CA367400536 | GCK | c.*797G>C (n.*797G>C) c.799G>C (p.Asp267His) c.802G>C (p.Asp268His) c.796G>C (p.Asp266His) c.748G>C (p.Asp250His) n.48C>G | ClinVar |
| 7 | g.44147714C>T | CA367400537 | GCK | c.*797G>A (n.*797G>A) c.799G>A (p.Asp267Asn) c.802G>A (p.Asp268Asn) c.796G>A (p.Asp266Asn) c.748G>A (p.Asp250Asn) n.48C>T | |
| 7 | g.44147715C>A | CA454608661 | GCK | c.*796G>T (n.*796G>T) c.798G>T (p.Leu266=) c.801G>T (p.Leu267=) c.795G>T (p.Leu265=) c.747G>T (p.Leu249=) n.49C>A | |
| 7 | g.44147715C>G | CA454608663 | GCK | c.*796G>C (n.*796G>C) c.798G>C (p.Leu266=) c.801G>C (p.Leu267=) c.795G>C (p.Leu265=) c.747G>C (p.Leu249=) n.49C>G | |
| 7 | g.44147715C>T | CA454608666 | GCK | c.*796G>A (n.*796G>A) c.798G>A (p.Leu266=) c.801G>A (p.Leu267=) c.795G>A (p.Leu265=) c.747G>A (p.Leu249=) n.49C>T | |
| 7 | g.44147716A>C | CA367400538 | GCK | c.*795T>G (n.*795T>G) c.797T>G (p.Leu266Arg) c.800T>G (p.Leu267Arg) c.794T>G (p.Leu265Arg) c.746T>G (p.Leu249Arg) n.50A>C | |
| 7 | g.44147716A>G | CA367400539 | GCK | c.*795T>C (n.*795T>C) c.797T>C (p.Leu266Pro) c.800T>C (p.Leu267Pro) c.794T>C (p.Leu265Pro) c.746T>C (p.Leu249Pro) n.50A>G | ClinVar |
| 7 | g.44147716A>T | CA367400540 | GCK | c.*795T>A (n.*795T>A) c.797T>A (p.Leu266Gln) c.800T>A (p.Leu267Gln) c.794T>A (p.Leu265Gln) c.746T>A (p.Leu249Gln) n.50A>T | ClinVar |
| 7 | g.44147717G>A | CA454608669 | GCK | c.*794C>T (n.*794C>T) c.796C>T (p.Leu266=) c.799C>T (p.Leu267=) c.793C>T (p.Leu265=) c.745C>T (p.Leu249=) n.51G>A | |
| 7 | g.44147717G>C | CA367400541 | GCK | c.*794C>G (n.*794C>G) c.796C>G (p.Leu266Val) c.799C>G (p.Leu267Val) c.793C>G (p.Leu265Val) c.745C>G (p.Leu249Val) n.51G>C | gnomAD v4 |
| 7 | g.44147717G>T | CA367400542 | GCK | c.*794C>A (n.*794C>A) c.796C>A (p.Leu266Met) c.799C>A (p.Leu267Met) c.793C>A (p.Leu265Met) c.745C>A (p.Leu249Met) n.51G>T | gnomAD v4 |
| 7 | g.44147718C>A | CA367400543 | GCK | c.*793G>T (n.*793G>T) c.795G>T (p.Glu265Asp) c.798G>T (p.Glu266Asp) c.792G>T (p.Glu264Asp) c.744G>T (p.Glu248Asp) n.52C>A | |
| 7 | g.44147718C>G | CA367400544 | GCK | c.*793G>C (n.*793G>C) c.795G>C (p.Glu265Asp) c.798G>C (p.Glu266Asp) c.792G>C (p.Glu264Asp) c.744G>C (p.Glu248Asp) n.52C>G | |
| 7 | g.44147718C>T | CA454608672 | GCK | c.*793G>A (n.*793G>A) c.795G>A (p.Glu265=) c.798G>A (p.Glu266=) c.792G>A (p.Glu264=) c.744G>A (p.Glu248=) n.52C>T | |
| 7 | g.44147719T>A | CA367400547 | GCK | c.*792A>T (n.*792A>T) c.794A>T (p.Glu265Val) c.797A>T (p.Glu266Val) c.791A>T (p.Glu264Val) c.743A>T (p.Glu248Val) n.53T>A | |
| 7 | g.44147719T>C | CA367400546 | GCK | c.*792A>G (n.*792A>G) c.794A>G (p.Glu265Gly) c.797A>G (p.Glu266Gly) c.791A>G (p.Glu264Gly) c.743A>G (p.Glu248Gly) n.53T>C | |
| 7 | g.44147719T>G | CA367400545 | GCK | c.*792A>C (n.*792A>C) c.794A>C (p.Glu265Ala) c.797A>C (p.Glu266Ala) c.791A>C (p.Glu264Ala) c.743A>C (p.Glu248Ala) n.53T>G | |
| 7 | g.44147720C>A | CA126214 | GCK | c.*791G>T (n.*791G>T) c.793G>T (p.Glu265Ter) c.796G>T (p.Glu266Ter) c.790G>T (p.Glu264Ter) c.742G>T (p.Glu248Ter) n.54C>A | ClinVar dbSNP |
| 7 | g.44147720C= | CA1703634902 | GCK | c.*791G= (n.*791G=) c.793G= (p.Glu265=) c.796G= (p.Glu266=) c.790G= (p.Glu264=) c.742G= (p.Glu248=) n.54C= | |
| 7 | g.44147720C>G | CA367400549 | GCK | c.*791G>C (n.*791G>C) c.793G>C (p.Glu265Gln) c.796G>C (p.Glu266Gln) c.790G>C (p.Glu264Gln) c.742G>C (p.Glu248Gln) n.54C>G | |
| 7 | g.44147720C>T | CA367400548 | GCK | c.*791G>A (n.*791G>A) c.793G>A (p.Glu265Lys) c.796G>A (p.Glu266Lys) c.790G>A (p.Glu264Lys) c.742G>A (p.Glu248Lys) n.54C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147721G>A | CA4239522 | GCK | c.*790C>T (n.*790C>T) c.792C>T (p.Gly264=) c.795C>T (p.Gly265=) c.789C>T (p.Gly263=) c.741C>T (p.Gly247=) n.55G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147721G>C | CA454608682 | GCK | c.*790C>G (n.*790C>G) c.792C>G (p.Gly264=) c.795C>G (p.Gly265=) c.789C>G (p.Gly263=) c.741C>G (p.Gly247=) n.55G>C | |
| 7 | g.44147721G= | CA1703634903 | GCK | c.*790C= (n.*790C=) c.792C= (p.Gly264=) c.795C= (p.Gly265=) c.789C= (p.Gly263=) c.741C= (p.Gly247=) n.55G= | |
| 7 | g.44147721G>T | CA454608684 | GCK | c.*790C>A (n.*790C>A) c.792C>A (p.Gly264=) c.795C>A (p.Gly265=) c.789C>A (p.Gly263=) c.741C>A (p.Gly247=) n.55G>T | ClinVar dbSNP |
| 7 | g.44147722C>A | CA367400550 | GCK | c.*789G>T (n.*789G>T) c.791G>T (p.Gly264Val) c.794G>T (p.Gly265Val) c.788G>T (p.Gly263Val) c.740G>T (p.Gly247Val) n.56C>A | |
| 7 | g.44147722C>G | CA367400551 | GCK | c.*789G>C (n.*789G>C) c.791G>C (p.Gly264Ala) c.794G>C (p.Gly265Ala) c.788G>C (p.Gly263Ala) c.740G>C (p.Gly247Ala) n.56C>G | |
| 7 | g.44147722C>T | CA367400552 | GCK | c.*789G>A (n.*789G>A) c.791G>A (p.Gly264Asp) c.794G>A (p.Gly265Asp) c.788G>A (p.Gly263Asp) c.740G>A (p.Gly247Asp) n.56C>T | |
| 7 | g.44147722_44147723dup | CA2695203090 | GCK | c.*788_*789dup (n.*788_*789dup) c.790_791dup (p.Glu265AlafsTer23) c.793_794dup (p.Glu266AlafsTer30) c.790_791dup (p.Glu265AlafsTer30) c.790_791dup (p.Glu265AlafsTer?) c.787_788dup (p.Glu264AlafsTer30) c.739_740dup (p.Glu248AlafsTer30) n.56_57dup |