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.122284598A= | CA1397872701 | CASR | c.2413A= (p.Lys805=) c.2674A= (p.Lys892=) c.2644A= (p.Lys882=) c.2161A= (p.Lys721=) c.2056A= (p.Lys686=) | |
| 3 | g.122284598A>C | CA354160475 | CASR | c.2413A>C (p.Lys805Gln) c.2674A>C (p.Lys892Gln) c.2644A>C (p.Lys882Gln) c.2161A>C (p.Lys721Gln) c.2056A>C (p.Lys686Gln) | |
| 3 | g.122284598A>G | CA354160476 | CASR | c.2413A>G (p.Lys805Glu) c.2674A>G (p.Lys892Glu) c.2644A>G (p.Lys882Glu) c.2161A>G (p.Lys721Glu) c.2056A>G (p.Lys686Glu) | |
| 3 | g.122284598A>T | CA213590 | CASR | c.2413A>T (p.Lys805Ter) c.2674A>T (p.Lys892Ter) c.2644A>T (p.Lys882Ter) c.2161A>T (p.Lys721Ter) c.2056A>T (p.Lys686Ter) | ClinVar dbSNP |
| 3 | g.122284599A= | CA1397872708 | CASR | c.2414A= (p.Lys805=) c.2675A= (p.Lys892=) c.2645A= (p.Lys882=) c.2162A= (p.Lys721=) c.2057A= (p.Lys686=) | |
| 3 | g.122284599A>C | CA354160477 | CASR | c.2414A>C (p.Lys805Thr) c.2675A>C (p.Lys892Thr) c.2645A>C (p.Lys882Thr) c.2162A>C (p.Lys721Thr) c.2057A>C (p.Lys686Thr) | |
| 3 | g.122284599A>G | CA354160479 | CASR | c.2414A>G (p.Lys805Arg) c.2675A>G (p.Lys892Arg) c.2645A>G (p.Lys882Arg) c.2162A>G (p.Lys721Arg) c.2057A>G (p.Lys686Arg) | ClinVar dbSNP |
| 3 | g.122284599A>T | CA354160478 | CASR | c.2414A>T (p.Lys805Met) c.2675A>T (p.Lys892Met) c.2645A>T (p.Lys882Met) c.2162A>T (p.Lys721Met) c.2057A>T (p.Lys686Met) | |
| 3 | g.122284600G>A | CA435425414 | CASR | c.2415G>A (p.Lys805=) c.2676G>A (p.Lys892=) c.2646G>A (p.Lys882=) c.2163G>A (p.Lys721=) c.2058G>A (p.Lys686=) | |
| 3 | g.122284600G>C | CA354160480 | CASR | c.2415G>C (p.Lys805Asn) c.2676G>C (p.Lys892Asn) c.2646G>C (p.Lys882Asn) c.2163G>C (p.Lys721Asn) c.2058G>C (p.Lys686Asn) | |
| 3 | g.122284600G= | CA1397872711 | CASR | c.2415G= (p.Lys805=) c.2676G= (p.Lys892=) c.2646G= (p.Lys882=) c.2163G= (p.Lys721=) c.2058G= (p.Lys686=) | |
| 3 | g.122284600G>T | CA354160481 | CASR | c.2415G>T (p.Lys805Asn) c.2676G>T (p.Lys892Asn) c.2646G>T (p.Lys882Asn) c.2163G>T (p.Lys721Asn) c.2058G>T (p.Lys686Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284601G>A | CA354160482 | CASR | c.2416G>A (p.Val806Met) c.2677G>A (p.Val893Met) c.2647G>A (p.Val883Met) c.2164G>A (p.Val722Met) c.2059G>A (p.Val687Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284601G>C | CA354160483 | CASR | c.2416G>C (p.Val806Leu) c.2677G>C (p.Val893Leu) c.2647G>C (p.Val883Leu) c.2164G>C (p.Val722Leu) c.2059G>C (p.Val687Leu) | |
| 3 | g.122284601G= | CA1397872713 | CASR | c.2416G= (p.Val806=) c.2677G= (p.Val893=) c.2647G= (p.Val883=) c.2164G= (p.Val722=) c.2059G= (p.Val687=) | |
| 3 | g.122284601G>T | CA354160484 | CASR | c.2416G>T (p.Val806Leu) c.2677G>T (p.Val893Leu) c.2647G>T (p.Val883Leu) c.2164G>T (p.Val722Leu) c.2059G>T (p.Val687Leu) | |
| 3 | g.122284602T>A | CA354160485 | CASR | c.2417T>A (p.Val806Glu) c.2678T>A (p.Val893Glu) c.2648T>A (p.Val883Glu) c.2165T>A (p.Val722Glu) c.2060T>A (p.Val687Glu) | |
| 3 | g.122284602T>C | CA354160486 | CASR | c.2417T>C (p.Val806Ala) c.2678T>C (p.Val893Ala) c.2648T>C (p.Val883Ala) c.2165T>C (p.Val722Ala) c.2060T>C (p.Val687Ala) | |
| 3 | g.122284602T>G | CA354160487 | CASR | c.2417T>G (p.Val806Gly) c.2678T>G (p.Val893Gly) c.2648T>G (p.Val883Gly) c.2165T>G (p.Val722Gly) c.2060T>G (p.Val687Gly) | dbSNP |
| 3 | g.122284602T= | CA1397872715 | CASR | c.2417T= (p.Val806=) c.2678T= (p.Val893=) c.2648T= (p.Val883=) c.2165T= (p.Val722=) c.2060T= (p.Val687=) | |
| 3 | g.122284604_122284607dup | CA2667224704 | CASR | c.2419_2422dup (p.Ala808GlyfsTer?) c.2680_2683dup (p.Ala895GlyfsTer?) c.2650_2653dup (p.Ala885GlyfsTer?) c.2167_2170dup (p.Ala724GlyfsTer?) c.2062_2065dup (p.Ala689GlyfsTer?) | gnomAD v4 |
| 3 | g.122284603G>A | CA435425416 | CASR | c.2418G>A (p.Val806=) c.2679G>A (p.Val893=) c.2649G>A (p.Val883=) c.2166G>A (p.Val722=) c.2061G>A (p.Val687=) | |
| 3 | g.122284603G>C | CA435425417 | CASR | c.2418G>C (p.Val806=) c.2679G>C (p.Val893=) c.2649G>C (p.Val883=) c.2166G>C (p.Val722=) c.2061G>C (p.Val687=) | |
| 3 | g.122284603G>T | CA435425418 | CASR | c.2418G>T (p.Val806=) c.2679G>T (p.Val893=) c.2649G>T (p.Val883=) c.2166G>T (p.Val722=) c.2061G>T (p.Val687=) | |
| 3 | g.122284604G>A | CA354160488 | CASR | c.2419G>A (p.Ala807Thr) c.2680G>A (p.Ala894Thr) c.2650G>A (p.Ala884Thr) c.2167G>A (p.Ala723Thr) c.2062G>A (p.Ala688Thr) | |
| 3 | g.122284604G>C | CA354160489 | CASR | c.2419G>C (p.Ala807Pro) c.2680G>C (p.Ala894Pro) c.2650G>C (p.Ala884Pro) c.2167G>C (p.Ala723Pro) c.2062G>C (p.Ala688Pro) | |
| 3 | g.122284604G>T | CA354160490 | CASR | c.2419G>T (p.Ala807Ser) c.2680G>T (p.Ala894Ser) c.2650G>T (p.Ala884Ser) c.2167G>T (p.Ala723Ser) c.2062G>T (p.Ala688Ser) | ClinVar COSMIC |
| 3 | g.122284605del | CA2580068665 | CASR | c.2420del (p.Ala807ValfsTer?) c.2681del (p.Ala894ValfsTer?) c.2651del (p.Ala884ValfsTer?) c.2168del (p.Ala723ValfsTer?) c.2063del (p.Ala688ValfsTer?) | ClinVar |
| 3 | g.122284605C>A | CA354160493 | CASR | c.2420C>A (p.Ala807Asp) c.2681C>A (p.Ala894Asp) c.2651C>A (p.Ala884Asp) c.2168C>A (p.Ala723Asp) c.2063C>A (p.Ala688Asp) | |
| 3 | g.122284605C>G | CA354160492 | CASR | c.2420C>G (p.Ala807Gly) c.2681C>G (p.Ala894Gly) c.2651C>G (p.Ala884Gly) c.2168C>G (p.Ala723Gly) c.2063C>G (p.Ala688Gly) | |
| 3 | g.122284605C>T | CA354160491 | CASR | c.2420C>T (p.Ala807Val) c.2681C>T (p.Ala894Val) c.2651C>T (p.Ala884Val) c.2168C>T (p.Ala723Val) c.2063C>T (p.Ala688Val) | COSMIC |
| 3 | g.122284606T>A | CA435425421 | CASR | c.2421T>A (p.Ala807=) c.2682T>A (p.Ala894=) c.2652T>A (p.Ala884=) c.2169T>A (p.Ala723=) c.2064T>A (p.Ala688=) | |
| 3 | g.122284606T>C | CA435425422 | CASR | c.2421T>C (p.Ala807=) c.2682T>C (p.Ala894=) c.2652T>C (p.Ala884=) c.2169T>C (p.Ala723=) c.2064T>C (p.Ala688=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284606T>G | CA435425423 | CASR | c.2421T>G (p.Ala807=) c.2682T>G (p.Ala894=) c.2652T>G (p.Ala884=) c.2169T>G (p.Ala723=) c.2064T>G (p.Ala688=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284606T= | CA1397872718 | CASR | c.2421T= (p.Ala807=) c.2682T= (p.Ala894=) c.2652T= (p.Ala884=) c.2169T= (p.Ala723=) c.2064T= (p.Ala688=) | |
| 3 | g.122284607G>A | CA354160496 | CASR | c.2422G>A (p.Ala808Thr) c.2683G>A (p.Ala895Thr) c.2653G>A (p.Ala885Thr) c.2170G>A (p.Ala724Thr) c.2065G>A (p.Ala689Thr) | |
| 3 | g.122284607G>C | CA354160494 | CASR | c.2422G>C (p.Ala808Pro) c.2683G>C (p.Ala895Pro) c.2653G>C (p.Ala885Pro) c.2170G>C (p.Ala724Pro) c.2065G>C (p.Ala689Pro) | |
| 3 | g.122284607G>T | CA354160495 | CASR | c.2422G>T (p.Ala808Ser) c.2683G>T (p.Ala895Ser) c.2653G>T (p.Ala885Ser) c.2170G>T (p.Ala724Ser) c.2065G>T (p.Ala689Ser) | gnomAD v4 |
| 3 | g.122284607_122284636del | CA2580068666 | CASR | c.2422_2451del (p.Ala808_Val817del) c.2683_2712del (p.Ala895_Val904del) c.2653_2682del (p.Ala885_Val894del) c.2170_2199del (p.Ala724_Val733del) c.2065_2094del (p.Ala689_Val698del) | ClinVar dbSNP |
| 3 | g.122284608C>A | CA354160497 | CASR | c.2423C>A (p.Ala808Asp) c.2684C>A (p.Ala895Asp) c.2654C>A (p.Ala885Asp) c.2171C>A (p.Ala724Asp) c.2066C>A (p.Ala689Asp) | |
| 3 | g.122284608C>G | CA354160498 | CASR | c.2423C>G (p.Ala808Gly) c.2684C>G (p.Ala895Gly) c.2654C>G (p.Ala885Gly) c.2171C>G (p.Ala724Gly) c.2066C>G (p.Ala689Gly) | |
| 3 | g.122284608C>T | CA354160499 | CASR | c.2423C>T (p.Ala808Val) c.2684C>T (p.Ala895Val) c.2654C>T (p.Ala885Val) c.2171C>T (p.Ala724Val) c.2066C>T (p.Ala689Val) | |
| 3 | g.122284609C>A | CA435425425 | CASR | c.2424C>A (p.Ala808=) c.2685C>A (p.Ala895=) c.2655C>A (p.Ala885=) c.2172C>A (p.Ala724=) c.2067C>A (p.Ala689=) | |
| 3 | g.122284609C>G | CA435425427 | CASR | c.2424C>G (p.Ala808=) c.2685C>G (p.Ala895=) c.2655C>G (p.Ala885=) c.2172C>G (p.Ala724=) c.2067C>G (p.Ala689=) | |
| 3 | g.122284609C>T | CA435425426 | CASR | c.2424C>T (p.Ala808=) c.2685C>T (p.Ala895=) c.2655C>T (p.Ala885=) c.2172C>T (p.Ala724=) c.2067C>T (p.Ala689=) | |
| 3 | g.122284610C>A | CA435425428 | CASR | c.2425C>A (p.Arg809=) c.2686C>A (p.Arg896=) c.2656C>A (p.Arg886=) c.2173C>A (p.Arg725=) c.2068C>A (p.Arg690=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284610C= | CA1397872723 | CASR | c.2425C= (p.Arg809=) c.2686C= (p.Arg896=) c.2656C= (p.Arg886=) c.2173C= (p.Arg725=) c.2068C= (p.Arg690=) | |
| 3 | g.122284610C>G | CA354160500 | CASR | c.2425C>G (p.Arg809Gly) c.2686C>G (p.Arg896Gly) c.2656C>G (p.Arg886Gly) c.2173C>G (p.Arg725Gly) c.2068C>G (p.Arg690Gly) | ClinVar |
| 3 | g.122284610C>T | CA354160501 | CASR | c.2425C>T (p.Arg809Trp) c.2686C>T (p.Arg896Trp) c.2656C>T (p.Arg886Trp) c.2173C>T (p.Arg725Trp) c.2068C>T (p.Arg690Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284611G>A | CA354160502 | CASR | c.2426G>A (p.Arg809Gln) c.2687G>A (p.Arg896Gln) c.2657G>A (p.Arg886Gln) c.2174G>A (p.Arg725Gln) c.2069G>A (p.Arg690Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |