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.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.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) | |
| 7 | g.44152336T= | CA1703637058 | GCK | c.*296A= (n.*296A=) c.298A= (p.Ser100=) n.784A= c.301A= (p.Ser101=) c.295A= (p.Ser99=) | |
| 7 | g.44152337C>A | CA367402799 | GCK | c.*295G>T (n.*295G>T) c.297G>T (p.Trp99Cys) n.783G>T c.300G>T (p.Trp100Cys) c.294G>T (p.Trp98Cys) | |
| 7 | g.44152337C>G | CA367402797 | GCK | c.*295G>C (n.*295G>C) c.297G>C (p.Trp99Cys) n.783G>C c.300G>C (p.Trp100Cys) c.294G>C (p.Trp98Cys) | |
| 7 | g.44152337C>T | CA367402801 | GCK | c.*295G>A (n.*295G>A) c.297G>A (p.Trp99Ter) n.783G>A c.300G>A (p.Trp100Ter) c.294G>A (p.Trp98Ter) | |
| 7 | g.44152338C>A | CA367402803 | GCK | c.*294G>T (n.*294G>T) c.296G>T (p.Trp99Leu) n.782G>T c.299G>T (p.Trp100Leu) c.293G>T (p.Trp98Leu) | |
| 7 | g.44152338C>G | CA367402806 | GCK | c.*294G>C (n.*294G>C) c.296G>C (p.Trp99Ser) n.782G>C c.299G>C (p.Trp100Ser) c.293G>C (p.Trp98Ser) | |
| 7 | g.44152338C>T | CA367402804 | GCK | c.*294G>A (n.*294G>A) c.296G>A (p.Trp99Ter) n.782G>A c.299G>A (p.Trp100Ter) c.293G>A (p.Trp98Ter) | ClinVar COSMIC COSMIC |
| 7 | g.44152338_44152339delinsCA | CA1703637059 | GCK | c.*293_*294delinsTG (n.*293_*294delinsTG) c.295_296delinsTG (p.Trp99=) n.781_782delinsTG c.298_299delinsTG (p.Trp100=) c.292_293delinsTG (p.Trp98=) | |
| 7 | g.44152339del | CA645372836 | GCK | c.*293del (n.*293del) c.295del (p.Trp99GlyfsTer3) n.781del c.298del (p.Trp100GlyfsTer3) c.292del (p.Trp98GlyfsTer3) | ClinVar dbSNP |
| 7 | g.44152339A= | CA1703637060 | GCK | c.*293T= (n.*293T=) c.295T= (p.Trp99=) n.781T= c.298T= (p.Trp100=) c.292T= (p.Trp98=) | |
| 7 | g.44152339A>C | CA367402808 | GCK | c.*293T>G (n.*293T>G) c.295T>G (p.Trp99Gly) n.781T>G c.298T>G (p.Trp100Gly) c.292T>G (p.Trp98Gly) | |
| 7 | g.44152339A>G | CA367402811 | GCK | c.*293T>C (n.*293T>C) c.295T>C (p.Trp99Arg) n.781T>C c.298T>C (p.Trp100Arg) c.292T>C (p.Trp98Arg) | ClinVar dbSNP |
| 7 | g.44152339A>T | CA367402810 | GCK | c.*293T>A (n.*293T>A) c.295T>A (p.Trp99Arg) n.781T>A c.298T>A (p.Trp100Arg) c.292T>A (p.Trp98Arg) | |
| 7 | g.44152340C>A | CA367402812 | GCK | c.*292G>T (n.*292G>T) c.294G>T (p.Gln98His) n.780G>T c.297G>T (p.Gln99His) c.291G>T (p.Gln97His) | |
| 7 | g.44152340C>G | CA367402813 | GCK | c.*292G>C (n.*292G>C) c.294G>C (p.Gln98His) n.780G>C c.297G>C (p.Gln99His) c.291G>C (p.Gln97His) | |
| 7 | g.44152340C>T | CA454610247 | GCK | c.*292G>A (n.*292G>A) c.294G>A (p.Gln98=) n.780G>A c.297G>A (p.Gln99=) c.291G>A (p.Gln97=) | gnomAD v4 |