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 |
|---|---|---|---|---|---|
| 3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
| 3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
| 3 | g.122284755_122284832dup | CA2667224708 | CASR | c.2570_2647dup (p.Gln882_Pro883insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2831_2908dup (p.Gln969_Pro970insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2801_2878dup (p.Gln959_Pro960insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2318_2395dup (p.Gln798_Pro799insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2213_2290dup (p.Gln763_Pro764insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) | gnomAD v4 |
| 3 | g.122284796_122284834dup | CA545962776 | CASR | c.2611_2649dup (p.Pro883_Arg884insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2872_2910dup (p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2842_2880dup (p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2359_2397dup (p.Pro799_Arg800insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2254_2292dup (p.Pro764_Arg765insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284822_122284823del | CA2703904610 | CASR | c.2637_2638del (p.Gln880AlafsTer23) c.2898_2899del (p.Gln967AlafsTer23) c.2868_2869del (p.Gln957AlafsTer23) c.2385_2386del (p.Gln796AlafsTer23) c.2280_2281del (p.Gln761AlafsTer23) | dbSNP |
| 3 | g.122284822T>A | CA435425682 | CASR | c.2637T>A (p.Ser879=) c.2898T>A (p.Ser966=) c.2868T>A (p.Ser956=) c.2385T>A (p.Ser795=) c.2280T>A (p.Ser760=) | |
| 3 | g.122284822T>C | CA435425683 | CASR | c.2637T>C (p.Ser879=) c.2898T>C (p.Ser966=) c.2868T>C (p.Ser956=) c.2385T>C (p.Ser795=) c.2280T>C (p.Ser760=) | |
| 3 | g.122284822T>G | CA435425684 | CASR | c.2637T>G (p.Ser879=) c.2898T>G (p.Ser966=) c.2868T>G (p.Ser956=) c.2385T>G (p.Ser795=) c.2280T>G (p.Ser760=) | |
| 3 | g.122284823C>A | CA354160944 | CASR | c.2638C>A (p.Gln880Lys) c.2899C>A (p.Gln967Lys) c.2869C>A (p.Gln957Lys) c.2386C>A (p.Gln796Lys) c.2281C>A (p.Gln761Lys) | |
| 3 | g.122284823C>G | CA354160945 | CASR | c.2638C>G (p.Gln880Glu) c.2899C>G (p.Gln967Glu) c.2869C>G (p.Gln957Glu) c.2386C>G (p.Gln796Glu) c.2281C>G (p.Gln761Glu) | |
| 3 | g.122284823C>T | CA354160943 | CASR | c.2638C>T (p.Gln880Ter) c.2899C>T (p.Gln967Ter) c.2869C>T (p.Gln957Ter) c.2386C>T (p.Gln796Ter) c.2281C>T (p.Gln761Ter) | |
| 3 | g.122284830_122284832del | CA2580616521 | CASR | c.2645_2647del (p.Gln882del) c.2906_2908del (p.Gln969del) c.2876_2878del (p.Gln959del) c.2393_2395del (p.Gln798del) c.2288_2290del (p.Gln763del) | ClinVar dbSNP |
| 3 | g.122284824A= | CA1397872980 | CASR | c.2639A= (p.Gln880=) c.2900A= (p.Gln967=) c.2870A= (p.Gln957=) c.2387A= (p.Gln796=) c.2282A= (p.Gln761=) | |
| 3 | g.122284824A>C | CA354160946 | CASR | c.2639A>C (p.Gln880Pro) c.2900A>C (p.Gln967Pro) c.2870A>C (p.Gln957Pro) c.2387A>C (p.Gln796Pro) c.2282A>C (p.Gln761Pro) | gnomAD v4 |
| 3 | g.122284824A>G | CA2569883 | CASR | c.2639A>G (p.Gln880Arg) c.2900A>G (p.Gln967Arg) c.2870A>G (p.Gln957Arg) c.2387A>G (p.Gln796Arg) c.2282A>G (p.Gln761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284824A>T | CA354160947 | CASR | c.2639A>T (p.Gln880Leu) c.2900A>T (p.Gln967Leu) c.2870A>T (p.Gln957Leu) c.2387A>T (p.Gln796Leu) c.2282A>T (p.Gln761Leu) | |
| 3 | g.122284825G>A | CA435425688 | CASR | c.2640G>A (p.Gln880=) c.2901G>A (p.Gln967=) c.2871G>A (p.Gln957=) c.2388G>A (p.Gln796=) c.2283G>A (p.Gln761=) | ClinVar |
| 3 | g.122284825G>C | CA82749324 | CASR | c.2640G>C (p.Gln880His) c.2901G>C (p.Gln967His) c.2871G>C (p.Gln957His) c.2388G>C (p.Gln796His) c.2283G>C (p.Gln761His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284825G= | CA1397872982 | CASR | c.2640G= (p.Gln880=) c.2901G= (p.Gln967=) c.2871G= (p.Gln957=) c.2388G= (p.Gln796=) c.2283G= (p.Gln761=) | |
| 3 | g.122284825G>T | CA354160948 | CASR | c.2640G>T (p.Gln880His) c.2901G>T (p.Gln967His) c.2871G>T (p.Gln957His) c.2388G>T (p.Gln796His) c.2283G>T (p.Gln761His) | |
| 3 | g.122284826C>A | CA354160949 | CASR | c.2641C>A (p.Gln881Lys) c.2902C>A (p.Gln968Lys) c.2872C>A (p.Gln958Lys) c.2389C>A (p.Gln797Lys) c.2284C>A (p.Gln762Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284826C= | CA1397872983 | CASR | c.2641C= (p.Gln881=) c.2902C= (p.Gln968=) c.2872C= (p.Gln958=) c.2389C= (p.Gln797=) c.2284C= (p.Gln762=) | |
| 3 | g.122284826C>G | CA354160950 | CASR | c.2641C>G (p.Gln881Glu) c.2902C>G (p.Gln968Glu) c.2872C>G (p.Gln958Glu) c.2389C>G (p.Gln797Glu) c.2284C>G (p.Gln762Glu) | |
| 3 | g.122284826C>T | CA354160951 | CASR | c.2641C>T (p.Gln881Ter) c.2902C>T (p.Gln968Ter) c.2872C>T (p.Gln958Ter) c.2389C>T (p.Gln797Ter) c.2284C>T (p.Gln762Ter) | |
| 3 | g.122284827A>C | CA354160952 | CASR | c.2642A>C (p.Gln881Pro) c.2903A>C (p.Gln968Pro) c.2873A>C (p.Gln958Pro) c.2390A>C (p.Gln797Pro) c.2285A>C (p.Gln762Pro) | |
| 3 | g.122284827A>G | CA354160953 | CASR | c.2642A>G (p.Gln881Arg) c.2903A>G (p.Gln968Arg) c.2873A>G (p.Gln958Arg) c.2390A>G (p.Gln797Arg) c.2285A>G (p.Gln762Arg) | ClinVar |
| 3 | g.122284827A>T | CA354160954 | CASR | c.2642A>T (p.Gln881Leu) c.2903A>T (p.Gln968Leu) c.2873A>T (p.Gln958Leu) c.2390A>T (p.Gln797Leu) c.2285A>T (p.Gln762Leu) | gnomAD v4 COSMIC |
| 3 | g.122284828G>A | CA435425692 | CASR | c.2643G>A (p.Gln881=) c.2904G>A (p.Gln968=) c.2874G>A (p.Gln958=) c.2391G>A (p.Gln797=) c.2286G>A (p.Gln762=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284828G>C | CA354160955 | CASR | c.2643G>C (p.Gln881His) c.2904G>C (p.Gln968His) c.2874G>C (p.Gln958His) c.2391G>C (p.Gln797His) c.2286G>C (p.Gln762His) | |
| 3 | g.122284828G= | CA1397872985 | CASR | c.2643G= (p.Gln881=) c.2904G= (p.Gln968=) c.2874G= (p.Gln958=) c.2391G= (p.Gln797=) c.2286G= (p.Gln762=) | |
| 3 | g.122284828G>T | CA354160956 | CASR | c.2643G>T (p.Gln881His) c.2904G>T (p.Gln968His) c.2874G>T (p.Gln958His) c.2391G>T (p.Gln797His) c.2286G>T (p.Gln762His) | |
| 3 | g.122284829C>A | CA354160957 | CASR | c.2644C>A (p.Gln882Lys) c.2905C>A (p.Gln969Lys) c.2875C>A (p.Gln959Lys) c.2392C>A (p.Gln798Lys) c.2287C>A (p.Gln763Lys) | ClinVar dbSNP |
| 3 | g.122284829C>G | CA354160958 | CASR | c.2644C>G (p.Gln882Glu) c.2905C>G (p.Gln969Glu) c.2875C>G (p.Gln959Glu) c.2392C>G (p.Gln798Glu) c.2287C>G (p.Gln763Glu) | gnomAD v4 |
| 3 | g.122284829C>T | CA354160959 | CASR | c.2644C>T (p.Gln882Ter) c.2905C>T (p.Gln969Ter) c.2875C>T (p.Gln959Ter) c.2392C>T (p.Gln798Ter) c.2287C>T (p.Gln763Ter) | |
| 3 | g.122284830A>C | CA354160960 | CASR | c.2645A>C (p.Gln882Pro) c.2906A>C (p.Gln969Pro) c.2876A>C (p.Gln959Pro) c.2393A>C (p.Gln798Pro) c.2288A>C (p.Gln763Pro) | |
| 3 | g.122284830A>G | CA354160962 | CASR | c.2645A>G (p.Gln882Arg) c.2906A>G (p.Gln969Arg) c.2876A>G (p.Gln959Arg) c.2393A>G (p.Gln798Arg) c.2288A>G (p.Gln763Arg) | |
| 3 | g.122284830A>T | CA354160961 | CASR | c.2645A>T (p.Gln882Leu) c.2906A>T (p.Gln969Leu) c.2876A>T (p.Gln959Leu) c.2393A>T (p.Gln798Leu) c.2288A>T (p.Gln763Leu) | |
| 3 | g.122284831del | CA2573136467 | CASR | c.2646del (p.Gln882HisfsTer19) c.2907del (p.Gln969HisfsTer19) c.2877del (p.Gln959HisfsTer19) c.2394del (p.Gln798HisfsTer19) c.2289del (p.Gln763HisfsTer19) | ClinVar dbSNP |
| 3 | g.122284831G>A | CA435425696 | CASR | c.2646G>A (p.Gln882=) c.2907G>A (p.Gln969=) c.2877G>A (p.Gln959=) c.2394G>A (p.Gln798=) c.2289G>A (p.Gln763=) | |
| 3 | g.122284831G>C | CA354160963 | CASR | c.2646G>C (p.Gln882His) c.2907G>C (p.Gln969His) c.2877G>C (p.Gln959His) c.2394G>C (p.Gln798His) c.2289G>C (p.Gln763His) | |
| 3 | g.122284831G>T | CA354160964 | CASR | c.2646G>T (p.Gln882His) c.2907G>T (p.Gln969His) c.2877G>T (p.Gln959His) c.2394G>T (p.Gln798His) c.2289G>T (p.Gln763His) | |
| 3 | g.122284832C>A | CA354160965 | CASR | c.2647C>A (p.Pro883Thr) c.2908C>A (p.Pro970Thr) c.2878C>A (p.Pro960Thr) c.2395C>A (p.Pro799Thr) c.2290C>A (p.Pro764Thr) | |
| 3 | g.122284832C= | CA1397872986 | CASR | c.2647C= (p.Pro883=) c.2908C= (p.Pro970=) c.2878C= (p.Pro960=) c.2395C= (p.Pro799=) c.2290C= (p.Pro764=) | |
| 3 | g.122284832C>G | CA354160966 | CASR | c.2647C>G (p.Pro883Ala) c.2908C>G (p.Pro970Ala) c.2878C>G (p.Pro960Ala) c.2395C>G (p.Pro799Ala) c.2290C>G (p.Pro764Ala) | gnomAD v4 |
| 3 | g.122284832C>T | CA354160967 | CASR | c.2647C>T (p.Pro883Ser) c.2908C>T (p.Pro970Ser) c.2878C>T (p.Pro960Ser) c.2395C>T (p.Pro799Ser) c.2290C>T (p.Pro764Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284833C>A | CA354160968 | CASR | c.2648C>A (p.Pro883His) c.2909C>A (p.Pro970His) c.2879C>A (p.Pro960His) c.2396C>A (p.Pro799His) c.2291C>A (p.Pro764His) | |
| 3 | g.122284833C>G | CA354160969 | CASR | c.2648C>G (p.Pro883Arg) c.2909C>G (p.Pro970Arg) c.2879C>G (p.Pro960Arg) c.2396C>G (p.Pro799Arg) c.2291C>G (p.Pro764Arg) | |
| 3 | g.122284833C>T | CA354160970 | CASR | c.2648C>T (p.Pro883Leu) c.2909C>T (p.Pro970Leu) c.2879C>T (p.Pro960Leu) c.2396C>T (p.Pro799Leu) c.2291C>T (p.Pro764Leu) | ClinVar gnomAD v4 |
| 3 | g.122284834C>A | CA435425698 | CASR | c.2649C>A (p.Pro883=) c.2910C>A (p.Pro970=) c.2880C>A (p.Pro960=) c.2397C>A (p.Pro799=) c.2292C>A (p.Pro764=) | |
| 3 | g.122284834C>G | CA435425699 | CASR | c.2649C>G (p.Pro883=) c.2910C>G (p.Pro970=) c.2880C>G (p.Pro960=) c.2397C>G (p.Pro799=) c.2292C>G (p.Pro764=) |