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.44152322_44152325del | CA2695202994 | GCK | c.*309_*312del (n.*309_*312del) c.311_314del (p.Lys104ThrfsTer11) n.797_800del c.314_317del (p.Lys105ThrfsTer11) c.308_311del (p.Lys103ThrfsTer11) | |
| 7 | g.44152329_44152330insCCGTTTGGTCT | CA2695202996 | GCK | c.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC) c.313_314insGGAGACCAAAC (p.His105ArgfsTer15) n.799_800insGGAGACCAAAC c.316_317insGGAGACCAAAC (p.His106ArgfsTer15) c.310_311insGGAGACCAAAC (p.His104ArgfsTer15) | |
| 7 | g.44152325G>A | CA454610215 | GCK | c.*307C>T (n.*307C>T) c.309C>T (p.Thr103=) n.795C>T c.312C>T (p.Thr104=) c.306C>T (p.Thr102=) | |
| 7 | g.44152325G>C | CA454610216 | GCK | c.*307C>G (n.*307C>G) c.309C>G (p.Thr103=) n.795C>G c.312C>G (p.Thr104=) c.306C>G (p.Thr102=) | |
| 7 | g.44152325G>T | CA454610218 | GCK | c.*307C>A (n.*307C>A) c.309C>A (p.Thr103=) n.795C>A c.312C>A (p.Thr104=) c.306C>A (p.Thr102=) | |
| 7 | g.44152326G>A | CA367402747 | GCK | c.*306C>T (n.*306C>T) c.308C>T (p.Thr103Ile) n.794C>T c.311C>T (p.Thr104Ile) c.305C>T (p.Thr102Ile) | |
| 7 | g.44152326G>C | CA367402748 | GCK | c.*306C>G (n.*306C>G) c.308C>G (p.Thr103Ser) n.794C>G c.311C>G (p.Thr104Ser) c.305C>G (p.Thr102Ser) | ClinVar gnomAD v4 |
| 7 | g.44152326G= | CA1703637051 | GCK | c.*306C= (n.*306C=) c.308C= (p.Thr103=) n.794C= c.311C= (p.Thr104=) c.305C= (p.Thr102=) | |
| 7 | g.44152326G>T | CA367402750 | GCK | c.*306C>A (n.*306C>A) c.308C>A (p.Thr103Asn) n.794C>A c.311C>A (p.Thr104Asn) c.305C>A (p.Thr102Asn) | dbSNP |
| 7 | g.44152327del | CA2573142148 | GCK | c.*305del (n.*305del) c.307del (p.Thr103ProfsTer13) n.793del c.310del (p.Thr104ProfsTer13) c.304del (p.Thr102ProfsTer13) | ClinVar dbSNP |
| 7 | g.44152327T>A | CA367402757 | GCK | c.*305A>T (n.*305A>T) c.307A>T (p.Thr103Ser) n.793A>T c.310A>T (p.Thr104Ser) c.304A>T (p.Thr102Ser) | ClinVar dbSNP |
| 7 | g.44152327T>C | CA367402755 | GCK | c.*305A>G (n.*305A>G) c.307A>G (p.Thr103Ala) n.793A>G c.310A>G (p.Thr104Ala) c.304A>G (p.Thr102Ala) | gnomAD v4 |
| 7 | g.44152327T>G | CA367402756 | GCK | c.*305A>C (n.*305A>C) c.307A>C (p.Thr103Pro) n.793A>C c.310A>C (p.Thr104Pro) c.304A>C (p.Thr102Pro) | |
| 7 | g.44152327T= | CA1703637052 | GCK | c.*305A= (n.*305A=) c.307A= (p.Thr103=) n.793A= c.310A= (p.Thr104=) c.304A= (p.Thr102=) | |
| 7 | g.44152328C>A | CA367402759 | GCK | c.*304G>T (n.*304G>T) c.306G>T (p.Lys102Asn) n.792G>T c.309G>T (p.Lys103Asn) c.303G>T (p.Lys101Asn) | |
| 7 | g.44152328C>G | CA367402761 | GCK | c.*304G>C (n.*304G>C) c.306G>C (p.Lys102Asn) n.792G>C c.309G>C (p.Lys103Asn) c.303G>C (p.Lys101Asn) | gnomAD v4 |
| 7 | g.44152328C>T | CA454610224 | GCK | c.*304G>A (n.*304G>A) c.306G>A (p.Lys102=) n.792G>A c.309G>A (p.Lys103=) c.303G>A (p.Lys101=) | gnomAD v4 |
| 7 | g.44152329T>A | CA367402763 | GCK | c.*303A>T (n.*303A>T) c.305A>T (p.Lys102Met) n.791A>T c.308A>T (p.Lys103Met) c.302A>T (p.Lys101Met) | |
| 7 | g.44152329T>C | CA367402764 | GCK | c.*303A>G (n.*303A>G) c.305A>G (p.Lys102Arg) n.791A>G c.308A>G (p.Lys103Arg) c.302A>G (p.Lys101Arg) | |
| 7 | g.44152329T>G | CA367402765 | GCK | c.*303A>C (n.*303A>C) c.305A>C (p.Lys102Thr) n.791A>C c.308A>C (p.Lys103Thr) c.302A>C (p.Lys101Thr) | dbSNP |
| 7 | g.44152329T= | CA1703637053 | GCK | c.*303A= (n.*303A=) c.305A= (p.Lys102=) n.791A= c.308A= (p.Lys103=) c.302A= (p.Lys101=) | |
| 7 | g.44152330T>A | CA213775 | GCK | c.*302A>T (n.*302A>T) c.304A>T (p.Lys102Ter) n.790A>T c.307A>T (p.Lys103Ter) c.301A>T (p.Lys101Ter) | ClinVar dbSNP |
| 7 | g.44152330T>C | CA367402771 | GCK | c.*302A>G (n.*302A>G) c.304A>G (p.Lys102Glu) n.790A>G c.307A>G (p.Lys103Glu) c.301A>G (p.Lys101Glu) | |
| 7 | g.44152330T>G | CA367402769 | GCK | c.*302A>C (n.*302A>C) c.304A>C (p.Lys102Gln) n.790A>C c.307A>C (p.Lys103Gln) c.301A>C (p.Lys101Gln) | |
| 7 | g.44152330T= | CA1703637054 | GCK | c.*302A= (n.*302A=) c.304A= (p.Lys102=) n.790A= c.307A= (p.Lys103=) c.301A= (p.Lys101=) | |
| 7 | g.44152331C>A | CA454610230 | GCK | c.*301G>T (n.*301G>T) c.303G>T (p.Val101=) n.789G>T c.306G>T (p.Val102=) c.300G>T (p.Val100=) | |
| 7 | g.44152331C>G | CA454610231 | GCK | c.*301G>C (n.*301G>C) c.303G>C (p.Val101=) n.789G>C c.306G>C (p.Val102=) c.300G>C (p.Val100=) | |
| 7 | g.44152331C>T | CA454610232 | GCK | c.*301G>A (n.*301G>A) c.303G>A (p.Val101=) n.789G>A c.306G>A (p.Val102=) c.300G>A (p.Val100=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152332A= | CA1703637055 | GCK | c.*300T= (n.*300T=) c.302T= (p.Val101=) n.788T= c.305T= (p.Val102=) c.299T= (p.Val100=) | |
| 7 | g.44152332A>C | CA367402773 | GCK | c.*300T>G (n.*300T>G) c.302T>G (p.Val101Gly) n.788T>G c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | |
| 7 | g.44152332A>G | CA367402774 | GCK | c.*300T>C (n.*300T>C) c.302T>C (p.Val101Ala) n.788T>C c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | dbSNP |
| 7 | g.44152332A>T | CA367402776 | GCK | c.*300T>A (n.*300T>A) c.302T>A (p.Val101Glu) n.788T>A c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
| 7 | g.44152333del | CA2695202998 | GCK | c.*299del (n.*299del) c.301del (p.Val101Ter) n.787del c.304del (p.Val102Ter) c.298del (p.Val100Ter) | |
| 7 | g.44152333C>A | CA367402778 | GCK | c.*299G>T (n.*299G>T) c.301G>T (p.Val101Leu) n.787G>T c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | ClinVar |
| 7 | g.44152333C= | CA1703637056 | GCK | c.*299G= (n.*299G=) c.301G= (p.Val101=) n.787G= c.304G= (p.Val102=) c.298G= (p.Val100=) | |
| 7 | g.44152333C>G | CA367402780 | GCK | c.*299G>C (n.*299G>C) c.301G>C (p.Val101Leu) n.787G>C c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
| 7 | g.44152333C>T | CA4239679 | GCK | c.*299G>A (n.*299G>A) c.301G>A (p.Val101Met) n.787G>A c.304G>A (p.Val102Met) c.298G>A (p.Val100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152334G>A | CA4239680 | GCK | c.*298C>T (n.*298C>T) c.300C>T (p.Ser100=) n.786C>T c.303C>T (p.Ser101=) c.297C>T (p.Ser99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152334G>C | CA367402783 | GCK | c.*298C>G (n.*298C>G) c.300C>G (p.Ser100Arg) n.786C>G c.303C>G (p.Ser101Arg) c.297C>G (p.Ser99Arg) | |
| 7 | g.44152334G= | CA1703637057 | GCK | c.*298C= (n.*298C=) c.300C= (p.Ser100=) n.786C= c.303C= (p.Ser101=) c.297C= (p.Ser99=) | |
| 7 | g.44152334G>T | CA367402785 | GCK | c.*298C>A (n.*298C>A) c.300C>A (p.Ser100Arg) n.786C>A c.303C>A (p.Ser101Arg) c.297C>A (p.Ser99Arg) | |
| 7 | g.44152335C>A | CA367402787 | GCK | c.*297G>T (n.*297G>T) c.299G>T (p.Ser100Ile) n.785G>T c.302G>T (p.Ser101Ile) c.296G>T (p.Ser99Ile) | |
| 7 | g.44152335C>G | CA367402788 | GCK | c.*297G>C (n.*297G>C) c.299G>C (p.Ser100Thr) n.785G>C c.302G>C (p.Ser101Thr) c.296G>C (p.Ser99Thr) | |
| 7 | g.44152335C>T | CA367402789 | GCK | c.*297G>A (n.*297G>A) c.299G>A (p.Ser100Asn) n.785G>A c.302G>A (p.Ser101Asn) c.296G>A (p.Ser99Asn) | |
| 7 | g.44152339_44152360del | CA2695203001 | GCK | c.*276_*297del (n.*276_*297del) c.278_299del (p.Glu93AlafsTer2) n.764_785del c.281_302del (p.Glu94AlafsTer2) c.275_296del (p.Glu92AlafsTer2) | |
| 7 | g.44152336del | CA2695203002 | GCK | c.*296del (n.*296del) c.298del (p.Ser100AlafsTer2) n.784del c.301del (p.Ser101AlafsTer2) c.295del (p.Ser99AlafsTer2) | |
| 7 | g.44152336T>A | CA367402793 | GCK | c.*296A>T (n.*296A>T) c.298A>T (p.Ser100Cys) n.784A>T c.301A>T (p.Ser101Cys) c.295A>T (p.Ser99Cys) | |
| 7 | g.44152336T>C | CA367402795 | GCK | c.*296A>G (n.*296A>G) c.298A>G (p.Ser100Gly) n.784A>G c.301A>G (p.Ser101Gly) c.295A>G (p.Ser99Gly) | dbSNP gnomAD v4 |
| 7 | g.44152336T>G | CA367402792 | GCK | c.*296A>C (n.*296A>C) c.298A>C (p.Ser100Arg) n.784A>C c.301A>C (p.Ser101Arg) c.295A>C (p.Ser99Arg) |