UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.122284794_122284814dup | CA916082595 | CASR | c.2609_2629dup (p.Gln876_Gln877insProLeuThrLeuProGlnGln) c.2870_2890dup (p.Gln963_Gln964insProLeuThrLeuProGlnGln) c.2840_2860dup (p.Gln953_Gln954insProLeuThrLeuProGlnGln) c.2357_2377dup (p.Gln792_Gln793insProLeuThrLeuProGlnGln) c.2252_2272dup (p.Gln757_Gln758insProLeuThrLeuProGlnGln) | ClinVar dbSNP |
| 3 | g.122284813G>A | CA435425668 | CASR | c.2628G>A (p.Gln876=) c.2889G>A (p.Gln963=) c.2859G>A (p.Gln953=) c.2376G>A (p.Gln792=) c.2271G>A (p.Gln757=) | |
| 3 | g.122284813G>C | CA354160923 | CASR | c.2628G>C (p.Gln876His) c.2889G>C (p.Gln963His) c.2859G>C (p.Gln953His) c.2376G>C (p.Gln792His) c.2271G>C (p.Gln757His) | |
| 3 | g.122284813G>T | CA354160924 | CASR | c.2628G>T (p.Gln876His) c.2889G>T (p.Gln963His) c.2859G>T (p.Gln953His) c.2376G>T (p.Gln792His) c.2271G>T (p.Gln757His) | |
| 3 | g.122284814C>A | CA354160925 | CASR | c.2629C>A (p.Gln877Lys) c.2890C>A (p.Gln964Lys) c.2860C>A (p.Gln954Lys) c.2377C>A (p.Gln793Lys) c.2272C>A (p.Gln758Lys) | |
| 3 | g.122284814C>G | CA354160926 | CASR | c.2629C>G (p.Gln877Glu) c.2890C>G (p.Gln964Glu) c.2860C>G (p.Gln954Glu) c.2377C>G (p.Gln793Glu) c.2272C>G (p.Gln758Glu) | |
| 3 | g.122284814C>T | CA354160927 | CASR | c.2629C>T (p.Gln877Ter) c.2890C>T (p.Gln964Ter) c.2860C>T (p.Gln954Ter) c.2377C>T (p.Gln793Ter) c.2272C>T (p.Gln758Ter) | |
| 3 | g.122284815A>C | CA354160929 | CASR | c.2630A>C (p.Gln877Pro) c.2891A>C (p.Gln964Pro) c.2861A>C (p.Gln954Pro) c.2378A>C (p.Gln793Pro) c.2273A>C (p.Gln758Pro) | |
| 3 | g.122284815A>G | CA354160930 | CASR | c.2630A>G (p.Gln877Arg) c.2891A>G (p.Gln964Arg) c.2861A>G (p.Gln954Arg) c.2378A>G (p.Gln793Arg) c.2273A>G (p.Gln758Arg) | |
| 3 | g.122284815A>T | CA354160928 | CASR | c.2630A>T (p.Gln877Leu) c.2891A>T (p.Gln964Leu) c.2861A>T (p.Gln954Leu) c.2378A>T (p.Gln793Leu) c.2273A>T (p.Gln758Leu) | |
| 3 | g.122284816A= | CA1397872972 | CASR | c.2631A= (p.Gln877=) c.2892A= (p.Gln964=) c.2862A= (p.Gln954=) c.2379A= (p.Gln793=) c.2274A= (p.Gln758=) | |
| 3 | g.122284816A>C | CA354160931 | CASR | c.2631A>C (p.Gln877His) c.2892A>C (p.Gln964His) c.2862A>C (p.Gln954His) c.2379A>C (p.Gln793His) c.2274A>C (p.Gln758His) | |
| 3 | g.122284816A>G | CA2569882 | CASR | c.2631A>G (p.Gln877=) c.2892A>G (p.Gln964=) c.2862A>G (p.Gln954=) c.2379A>G (p.Gln793=) c.2274A>G (p.Gln758=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284816A>T | CA354160932 | CASR | c.2631A>T (p.Gln877His) c.2892A>T (p.Gln964His) c.2862A>T (p.Gln954His) c.2379A>T (p.Gln793His) c.2274A>T (p.Gln758His) | |
| 3 | g.122284817C>A | CA435425674 | CASR | c.2632C>A (p.Arg878=) c.2893C>A (p.Arg965=) c.2863C>A (p.Arg955=) c.2380C>A (p.Arg794=) c.2275C>A (p.Arg759=) | ClinVar |
| 3 | g.122284817C= | CA1397872973 | CASR | c.2632C= (p.Arg878=) c.2893C= (p.Arg965=) c.2863C= (p.Arg955=) c.2380C= (p.Arg794=) c.2275C= (p.Arg759=) | |
| 3 | g.122284817C>G | CA354160933 | CASR | c.2632C>G (p.Arg878Gly) c.2893C>G (p.Arg965Gly) c.2863C>G (p.Arg955Gly) c.2380C>G (p.Arg794Gly) c.2275C>G (p.Arg759Gly) | |
| 3 | g.122284817C>T | CA354160934 | CASR | c.2632C>T (p.Arg878Ter) c.2893C>T (p.Arg965Ter) c.2863C>T (p.Arg955Ter) c.2380C>T (p.Arg794Ter) c.2275C>T (p.Arg759Ter) | ClinVar dbSNP COSMIC |
| 3 | g.122284818G>A | CA82749315 | CASR | c.2633G>A (p.Arg878Gln) c.2894G>A (p.Arg965Gln) c.2864G>A (p.Arg955Gln) c.2381G>A (p.Arg794Gln) c.2276G>A (p.Arg759Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284818G>C | CA354160935 | CASR | c.2633G>C (p.Arg878Pro) c.2894G>C (p.Arg965Pro) c.2864G>C (p.Arg955Pro) c.2381G>C (p.Arg794Pro) c.2276G>C (p.Arg759Pro) | |
| 3 | g.122284818G= | CA1397872975 | CASR | c.2633G= (p.Arg878=) c.2894G= (p.Arg965=) c.2864G= (p.Arg955=) c.2381G= (p.Arg794=) c.2276G= (p.Arg759=) | |
| 3 | g.122284818G>T | CA354160936 | CASR | c.2633G>T (p.Arg878Leu) c.2894G>T (p.Arg965Leu) c.2864G>T (p.Arg955Leu) c.2381G>T (p.Arg794Leu) c.2276G>T (p.Arg759Leu) | COSMIC |
| 3 | g.122284819A>C | CA435425676 | CASR | c.2634A>C (p.Arg878=) c.2895A>C (p.Arg965=) c.2865A>C (p.Arg955=) c.2382A>C (p.Arg794=) c.2277A>C (p.Arg759=) | |
| 3 | g.122284819A>G | CA435425678 | CASR | c.2634A>G (p.Arg878=) c.2895A>G (p.Arg965=) c.2865A>G (p.Arg955=) c.2382A>G (p.Arg794=) c.2277A>G (p.Arg759=) | |
| 3 | g.122284819A>T | CA435425680 | CASR | c.2634A>T (p.Arg878=) c.2895A>T (p.Arg965=) c.2865A>T (p.Arg955=) c.2382A>T (p.Arg794=) c.2277A>T (p.Arg759=) | |
| 3 | g.122284820T>A | CA354160937 | CASR | c.2635T>A (p.Ser879Thr) c.2896T>A (p.Ser966Thr) c.2866T>A (p.Ser956Thr) c.2383T>A (p.Ser795Thr) c.2278T>A (p.Ser760Thr) | |
| 3 | g.122284820T>C | CA354160938 | CASR | c.2635T>C (p.Ser879Pro) c.2896T>C (p.Ser966Pro) c.2866T>C (p.Ser956Pro) c.2383T>C (p.Ser795Pro) c.2278T>C (p.Ser760Pro) | |
| 3 | g.122284820T>G | CA354160939 | CASR | c.2635T>G (p.Ser879Ala) c.2896T>G (p.Ser966Ala) c.2866T>G (p.Ser956Ala) c.2383T>G (p.Ser795Ala) c.2278T>G (p.Ser760Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284820T= | CA1397872977 | CASR | c.2635T= (p.Ser879=) c.2896T= (p.Ser966=) c.2866T= (p.Ser956=) c.2383T= (p.Ser795=) c.2278T= (p.Ser760=) | |
| 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.122284821C>A | CA354160940 | CASR | c.2636C>A (p.Ser879Tyr) c.2897C>A (p.Ser966Tyr) c.2867C>A (p.Ser956Tyr) c.2384C>A (p.Ser795Tyr) c.2279C>A (p.Ser760Tyr) | ClinVar dbSNP |
| 3 | g.122284821C= | CA1397872978 | CASR | c.2636C= (p.Ser879=) c.2897C= (p.Ser966=) c.2867C= (p.Ser956=) c.2384C= (p.Ser795=) c.2279C= (p.Ser760=) | |
| 3 | g.122284821C>G | CA354160941 | CASR | c.2636C>G (p.Ser879Cys) c.2897C>G (p.Ser966Cys) c.2867C>G (p.Ser956Cys) c.2384C>G (p.Ser795Cys) c.2279C>G (p.Ser760Cys) | |
| 3 | g.122284821C>T | CA354160942 | CASR | c.2636C>T (p.Ser879Phe) c.2897C>T (p.Ser966Phe) c.2867C>T (p.Ser956Phe) c.2384C>T (p.Ser795Phe) c.2279C>T (p.Ser760Phe) | gnomAD v4 |
| 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 |