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.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 |
| 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) |