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.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.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 |
| 3 | g.122284611G>C | CA16604355 | CASR | c.2426G>C (p.Arg809Pro) c.2687G>C (p.Arg896Pro) c.2657G>C (p.Arg886Pro) c.2174G>C (p.Arg725Pro) c.2069G>C (p.Arg690Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284611G= | CA1397872730 | CASR | c.2426G= (p.Arg809=) c.2687G= (p.Arg896=) c.2657G= (p.Arg886=) c.2174G= (p.Arg725=) c.2069G= (p.Arg690=) | |
| 3 | g.122284611G>T | CA354160503 | CASR | c.2426G>T (p.Arg809Leu) c.2687G>T (p.Arg896Leu) c.2657G>T (p.Arg886Leu) c.2174G>T (p.Arg725Leu) c.2069G>T (p.Arg690Leu) | |
| 3 | g.122284612G>A | CA435425431 | CASR | c.2427G>A (p.Arg809=) c.2688G>A (p.Arg896=) c.2658G>A (p.Arg886=) c.2175G>A (p.Arg725=) c.2070G>A (p.Arg690=) | ClinVar dbSNP |
| 3 | g.122284612G>C | CA435425433 | CASR | c.2427G>C (p.Arg809=) c.2688G>C (p.Arg896=) c.2658G>C (p.Arg886=) c.2175G>C (p.Arg725=) c.2070G>C (p.Arg690=) | |
| 3 | g.122284612G= | CA1397872737 | CASR | c.2427G= (p.Arg809=) c.2688G= (p.Arg896=) c.2658G= (p.Arg886=) c.2175G= (p.Arg725=) c.2070G= (p.Arg690=) | |
| 3 | g.122284612G>T | CA435425434 | CASR | c.2427G>T (p.Arg809=) c.2688G>T (p.Arg896=) c.2658G>T (p.Arg886=) c.2175G>T (p.Arg725=) c.2070G>T (p.Arg690=) | ClinVar dbSNP |
| 3 | g.122284613G>A | CA354160506 | CASR | c.2428G>A (p.Ala810Thr) c.2689G>A (p.Ala897Thr) c.2659G>A (p.Ala887Thr) c.2176G>A (p.Ala726Thr) c.2071G>A (p.Ala691Thr) | ClinVar |
| 3 | g.122284613G>C | CA354160504 | CASR | c.2428G>C (p.Ala810Pro) c.2689G>C (p.Ala897Pro) c.2659G>C (p.Ala887Pro) c.2176G>C (p.Ala726Pro) c.2071G>C (p.Ala691Pro) | |
| 3 | g.122284613G>T | CA354160505 | CASR | c.2428G>T (p.Ala810Ser) c.2689G>T (p.Ala897Ser) c.2659G>T (p.Ala887Ser) c.2176G>T (p.Ala726Ser) c.2071G>T (p.Ala691Ser) | |
| 3 | g.122284614C>A | CA354160507 | CASR | c.2429C>A (p.Ala810Asp) c.2690C>A (p.Ala897Asp) c.2660C>A (p.Ala887Asp) c.2177C>A (p.Ala726Asp) c.2072C>A (p.Ala691Asp) | ClinVar |
| 3 | g.122284614C>G | CA354160508 | CASR | c.2429C>G (p.Ala810Gly) c.2690C>G (p.Ala897Gly) c.2660C>G (p.Ala887Gly) c.2177C>G (p.Ala726Gly) c.2072C>G (p.Ala691Gly) | COSMIC |
| 3 | g.122284614C>T | CA354160509 | CASR | c.2429C>T (p.Ala810Val) c.2690C>T (p.Ala897Val) c.2660C>T (p.Ala887Val) c.2177C>T (p.Ala726Val) c.2072C>T (p.Ala691Val) | COSMIC |
| 3 | g.122284615C>A | CA435425436 | CASR | c.2430C>A (p.Ala810=) c.2691C>A (p.Ala897=) c.2661C>A (p.Ala887=) c.2178C>A (p.Ala726=) c.2073C>A (p.Ala691=) | |
| 3 | g.122284615C>G | CA435425437 | CASR | c.2430C>G (p.Ala810=) c.2691C>G (p.Ala897=) c.2661C>G (p.Ala887=) c.2178C>G (p.Ala726=) c.2073C>G (p.Ala691=) | |
| 3 | g.122284615C>T | CA435425438 | CASR | c.2430C>T (p.Ala810=) c.2691C>T (p.Ala897=) c.2661C>T (p.Ala887=) c.2178C>T (p.Ala726=) c.2073C>T (p.Ala691=) | |
| 3 | g.122284615_122284631delinsCACGCTGCGCCGCAGCA | CA1397872740 | CASR | c.2430_2446delinsCACGCTGCGCCGCAGCA (p.Ala810=) c.2691_2707delinsCACGCTGCGCCGCAGCA (p.Ala897=) c.2661_2677delinsCACGCTGCGCCGCAGCA (p.Ala887=) c.2178_2194delinsCACGCTGCGCCGCAGCA (p.Ala726=) c.2073_2089delinsCACGCTGCGCCGCAGCA (p.Ala691=) | |
| 3 | g.122284616A= | CA1397872745 | CASR | c.2431A= (p.Thr811=) c.2692A= (p.Thr898=) c.2662A= (p.Thr888=) c.2179A= (p.Thr727=) c.2074A= (p.Thr692=) | |
| 3 | g.122284616A>C | CA354160510 | CASR | c.2431A>C (p.Thr811Pro) c.2692A>C (p.Thr898Pro) c.2662A>C (p.Thr888Pro) c.2179A>C (p.Thr727Pro) c.2074A>C (p.Thr692Pro) | dbSNP |
| 3 | g.122284616A>G | CA354160511 | CASR | c.2431A>G (p.Thr811Ala) c.2692A>G (p.Thr898Ala) c.2662A>G (p.Thr888Ala) c.2179A>G (p.Thr727Ala) c.2074A>G (p.Thr692Ala) | |
| 3 | g.122284616A>T | CA354160512 | CASR | c.2431A>T (p.Thr811Ser) c.2692A>T (p.Thr898Ser) c.2662A>T (p.Thr888Ser) c.2179A>T (p.Thr727Ser) c.2074A>T (p.Thr692Ser) | gnomAD v4 |
| 3 | g.122284619_122284634del | CA915941533 | CASR | c.2434_2449del (p.Leu812SerfsTer?) c.2695_2710del (p.Leu899SerfsTer?) c.2665_2680del (p.Leu889SerfsTer?) c.2182_2197del (p.Leu728SerfsTer?) c.2077_2092del (p.Leu693SerfsTer?) | ClinVar dbSNP |
| 3 | g.122284617C>A | CA354160513 | CASR | c.2432C>A (p.Thr811Lys) c.2693C>A (p.Thr898Lys) c.2663C>A (p.Thr888Lys) c.2180C>A (p.Thr727Lys) c.2075C>A (p.Thr692Lys) | |
| 3 | g.122284617C>G | CA354160514 | CASR | c.2432C>G (p.Thr811Arg) c.2693C>G (p.Thr898Arg) c.2663C>G (p.Thr888Arg) c.2180C>G (p.Thr727Arg) c.2075C>G (p.Thr692Arg) | |
| 3 | g.122284617C>T | CA354160515 | CASR | c.2432C>T (p.Thr811Met) c.2693C>T (p.Thr898Met) c.2663C>T (p.Thr888Met) c.2180C>T (p.Thr727Met) c.2075C>T (p.Thr692Met) | ClinVar gnomAD v4 |
| 3 | g.122284618G>A | CA2569840 | CASR | c.2433G>A (p.Thr811=) c.2694G>A (p.Thr898=) c.2664G>A (p.Thr888=) c.2181G>A (p.Thr727=) c.2076G>A (p.Thr692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284618G>C | CA435425440 | CASR | c.2433G>C (p.Thr811=) c.2694G>C (p.Thr898=) c.2664G>C (p.Thr888=) c.2181G>C (p.Thr727=) c.2076G>C (p.Thr692=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284618G= | CA1397872752 | CASR | c.2433G= (p.Thr811=) c.2694G= (p.Thr898=) c.2664G= (p.Thr888=) c.2181G= (p.Thr727=) c.2076G= (p.Thr692=) | |
| 3 | g.122284618G>T | CA435425441 | CASR | c.2433G>T (p.Thr811=) c.2694G>T (p.Thr898=) c.2664G>T (p.Thr888=) c.2181G>T (p.Thr727=) c.2076G>T (p.Thr692=) | ClinVar dbSNP COSMIC |
| 3 | g.122284619C>A | CA354160517 | CASR | c.2434C>A (p.Leu812Met) c.2695C>A (p.Leu899Met) c.2665C>A (p.Leu889Met) c.2182C>A (p.Leu728Met) c.2077C>A (p.Leu693Met) |