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 |
|---|---|---|---|---|---|
| 4 | g.6302247_6302295delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG | CA1435772522 | WFS1 | c.2488_2536delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg830=) c.2429_2477delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg818=) c.2203_2251delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg735=) n.2637_2685delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2461_2509delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg821=) | |
| 4 | g.6302249_6302253del | CA2669843470 | WFS1 | c.2490_2494del (p.Gly832ProfsTer?) c.2431_2435del c.2454_2458del (p.Gly820ProfsTer?) c.2205_2209del (p.Gly737ProfsTer?) n.2639_2643del c.2463_2467del (p.Gly823ProfsTer?) | gnomAD v4 |
| 4 | g.6302250_6302297del | CA1435772523 | WFS1 | c.2491_2538del (p.Gln831_Gly846del) c.2432_2479del c.2455_2502del (p.Gln819_Gly834del) c.2206_2253del (p.Gln736_Gly751del) n.2640_2687del c.2464_2511del (p.Gln822_Gly837del) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6302250C>A | CA356178610 | WFS1 | c.2491C>A (p.Gln831Lys) c.2432C>A c.2455C>A (p.Gln819Lys) c.2206C>A (p.Gln736Lys) n.2640C>A c.2464C>A (p.Gln822Lys) | |
| 4 | g.6302250C= | CA1435772528 | WFS1 | c.2491C= (p.Gln831=) c.2432C= c.2455C= (p.Gln819=) c.2206C= (p.Gln736=) n.2640C= c.2464C= (p.Gln822=) | |
| 4 | g.6302250C>G | CA356178611 | WFS1 | c.2491C>G (p.Gln831Glu) c.2432C>G c.2455C>G (p.Gln819Glu) c.2206C>G (p.Gln736Glu) n.2640C>G c.2464C>G (p.Gln822Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302250C>T | CA253194 | WFS1 | c.2491C>T (p.Gln831Ter) c.2432C>T c.2455C>T (p.Gln819Ter) c.2206C>T (p.Gln736Ter) n.2640C>T c.2464C>T (p.Gln822Ter) | ClinVar dbSNP |
| 4 | g.6302251A= | CA1435772531 | WFS1 | c.2492A= (p.Gln831=) c.2433A= c.2456A= (p.Gln819=) c.2207A= (p.Gln736=) n.2641A= c.2465A= (p.Gln822=) | |
| 4 | g.6302251A>C | CA356178614 | WFS1 | c.2492A>C (p.Gln831Pro) c.2433A>C c.2456A>C (p.Gln819Pro) c.2207A>C (p.Gln736Pro) n.2641A>C c.2465A>C (p.Gln822Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302251A>G | CA356178612 | WFS1 | c.2492A>G (p.Gln831Arg) c.2433A>G c.2456A>G (p.Gln819Arg) c.2207A>G (p.Gln736Arg) n.2641A>G c.2465A>G (p.Gln822Arg) | dbSNP gnomAD v4 |
| 4 | g.6302251A>T | CA356178613 | WFS1 | c.2492A>T (p.Gln831Leu) c.2433A>T c.2456A>T (p.Gln819Leu) c.2207A>T (p.Gln736Leu) n.2641A>T c.2465A>T (p.Gln822Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302252G>A | CA438368319 | WFS1 | c.2493G>A (p.Gln831=) c.2434G>A c.2457G>A (p.Gln819=) c.2208G>A (p.Gln736=) n.2642G>A c.2466G>A (p.Gln822=) | dbSNP gnomAD v2 |
| 4 | g.6302252G>C | CA356178615 | WFS1 | c.2493G>C (p.Gln831His) c.2434G>C c.2457G>C (p.Gln819His) c.2208G>C (p.Gln736His) n.2642G>C c.2466G>C (p.Gln822His) | |
| 4 | g.6302252G= | CA1435772532 | WFS1 | c.2493G= (p.Gln831=) c.2434G= c.2457G= (p.Gln819=) c.2208G= (p.Gln736=) n.2642G= c.2466G= (p.Gln822=) | |
| 4 | g.6302252G>T | CA356178616 | WFS1 | c.2493G>T (p.Gln831His) c.2434G>T c.2457G>T (p.Gln819His) c.2208G>T (p.Gln736His) n.2642G>T c.2466G>T (p.Gln822His) | |
| 4 | g.6302253G>A | CA356178617 | WFS1 | c.2494G>A (p.Gly832Ser) c.2435G>A c.2458G>A (p.Gly820Ser) c.2209G>A (p.Gly737Ser) n.2643G>A c.2467G>A (p.Gly823Ser) | |
| 4 | g.6302253G>C | CA2839745 | WFS1 | c.2494G>C (p.Gly832Arg) c.2435G>C c.2458G>C (p.Gly820Arg) c.2209G>C (p.Gly737Arg) n.2643G>C c.2467G>C (p.Gly823Arg) | dbSNP ExAC gnomAD v2 |
| 4 | g.6302253G= | CA1435772534 | WFS1 | c.2494G= (p.Gly832=) c.2435G= c.2458G= (p.Gly820=) c.2209G= (p.Gly737=) n.2643G= c.2467G= (p.Gly823=) | |
| 4 | g.6302253G>T | CA356178618 | WFS1 | c.2494G>T (p.Gly832Cys) c.2435G>T c.2458G>T (p.Gly820Cys) c.2209G>T (p.Gly737Cys) n.2643G>T c.2467G>T (p.Gly823Cys) | |
| 4 | g.6302254G>A | CA2839747 | WFS1 | c.2495G>A (p.Gly832Asp) c.2436G>A c.2459G>A (p.Gly820Asp) c.2210G>A (p.Gly737Asp) n.2644G>A c.2468G>A (p.Gly823Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302254G>C | CA356178619 | WFS1 | c.2495G>C (p.Gly832Ala) c.2436G>C c.2459G>C (p.Gly820Ala) c.2210G>C (p.Gly737Ala) n.2644G>C c.2468G>C (p.Gly823Ala) | |
| 4 | g.6302254G= | CA1435772535 | WFS1 | c.2495G= (p.Gly832=) c.2436G= c.2459G= (p.Gly820=) c.2210G= (p.Gly737=) n.2644G= c.2468G= (p.Gly823=) | |
| 4 | g.6302254G>T | CA2839746 | WFS1 | c.2495G>T (p.Gly832Val) c.2436G>T c.2459G>T (p.Gly820Val) c.2210G>T (p.Gly737Val) n.2644G>T c.2468G>T (p.Gly823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302254_6302255insA | CA2760271238 | WFS1 | c.2495_2496insA (p.Ser833GlnfsTer?) c.2436_2437insA c.2459_2460insA (p.Ser821GlnfsTer?) c.2210_2211insA (p.Ser738GlnfsTer?) n.2644_2645insA c.2468_2469insA (p.Ser824GlnfsTer?) | |
| 4 | g.6302255C>A | CA438368320 | WFS1 | c.2496C>A (p.Gly832=) c.2437C>A c.2460C>A (p.Gly820=) c.2211C>A (p.Gly737=) n.2645C>A c.2469C>A (p.Gly823=) | |
| 4 | g.6302255C>G | CA438368321 | WFS1 | c.2496C>G (p.Gly832=) c.2437C>G c.2460C>G (p.Gly820=) c.2211C>G (p.Gly737=) n.2645C>G c.2469C>G (p.Gly823=) | |
| 4 | g.6302255C>T | CA438368322 | WFS1 | c.2496C>T (p.Gly832=) c.2437C>T c.2460C>T (p.Gly820=) c.2211C>T (p.Gly737=) n.2645C>T c.2469C>T (p.Gly823=) | |
| 4 | g.6302256del | CA2669843471 | WFS1 | c.2497del (p.Ser833AlafsTer?) c.2438del c.2461del (p.Ser821AlafsTer?) c.2212del (p.Ser738AlafsTer?) n.2646del c.2470del (p.Ser824AlafsTer?) | gnomAD v4 |
| 4 | g.6302256A>C | CA356178620 | WFS1 | c.2497A>C (p.Ser833Arg) c.2438A>C c.2461A>C (p.Ser821Arg) c.2212A>C (p.Ser738Arg) n.2646A>C c.2470A>C (p.Ser824Arg) | |
| 4 | g.6302256A>G | CA356178621 | WFS1 | c.2497A>G (p.Ser833Gly) c.2438A>G c.2461A>G (p.Ser821Gly) c.2212A>G (p.Ser738Gly) n.2646A>G c.2470A>G (p.Ser824Gly) | gnomAD v4 |
| 4 | g.6302256A>T | CA356178622 | WFS1 | c.2497A>T (p.Ser833Cys) c.2438A>T c.2461A>T (p.Ser821Cys) c.2212A>T (p.Ser738Cys) n.2646A>T c.2470A>T (p.Ser824Cys) | |
| 4 | g.6302257G>A | CA356178625 | WFS1 | c.2498G>A (p.Ser833Asn) c.2439G>A c.2462G>A (p.Ser821Asn) c.2213G>A (p.Ser738Asn) n.2647G>A c.2471G>A (p.Ser824Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6302257G>C | CA356178624 | WFS1 | c.2498G>C (p.Ser833Thr) c.2439G>C c.2462G>C (p.Ser821Thr) c.2213G>C (p.Ser738Thr) n.2647G>C c.2471G>C (p.Ser824Thr) | |
| 4 | g.6302257G= | CA1435772537 | WFS1 | c.2498G= (p.Ser833=) c.2439G= c.2462G= (p.Ser821=) c.2213G= (p.Ser738=) n.2647G= c.2471G= (p.Ser824=) | |
| 4 | g.6302257G>T | CA356178623 | WFS1 | c.2498G>T (p.Ser833Ile) c.2439G>T c.2462G>T (p.Ser821Ile) c.2213G>T (p.Ser738Ile) n.2647G>T c.2471G>T (p.Ser824Ile) | gnomAD v4 |
| 4 | g.6302258C>A | CA356178626 | WFS1 | c.2499C>A (p.Ser833Arg) c.2440C>A c.2463C>A (p.Ser821Arg) c.2214C>A (p.Ser738Arg) n.2648C>A c.2472C>A (p.Ser824Arg) | gnomAD v4 |
| 4 | g.6302258C= | CA1435772539 | WFS1 | c.2499C= (p.Ser833=) c.2440C= c.2463C= (p.Ser821=) c.2214C= (p.Ser738=) n.2648C= c.2472C= (p.Ser824=) | |
| 4 | g.6302258C>G | CA356178627 | WFS1 | c.2499C>G (p.Ser833Arg) c.2440C>G c.2463C>G (p.Ser821Arg) c.2214C>G (p.Ser738Arg) n.2648C>G c.2472C>G (p.Ser824Arg) | |
| 4 | g.6302258C>T | CA438368323 | WFS1 | c.2499C>T (p.Ser833=) c.2440C>T c.2463C>T (p.Ser821=) c.2214C>T (p.Ser738=) n.2648C>T c.2472C>T (p.Ser824=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302259C>A | CA356178628 | WFS1 | c.2500C>A (p.Leu834Ile) c.2441C>A c.2464C>A (p.Leu822Ile) c.2215C>A (p.Leu739Ile) n.2649C>A c.2473C>A (p.Leu825Ile) | gnomAD v4 |
| 4 | g.6302259C>G | CA356178629 | WFS1 | c.2500C>G (p.Leu834Val) c.2441C>G c.2464C>G (p.Leu822Val) c.2215C>G (p.Leu739Val) n.2649C>G c.2473C>G (p.Leu825Val) | |
| 4 | g.6302259C>T | CA356178630 | WFS1 | c.2500C>T (p.Leu834Phe) c.2441C>T c.2464C>T (p.Leu822Phe) c.2215C>T (p.Leu739Phe) n.2649C>T c.2473C>T (p.Leu825Phe) | |
| 4 | g.6302259_6302260delinsCT | CA1435772541 | WFS1 | c.2500_2501delinsCT (p.Leu834=) c.2441_2442delinsCT c.2464_2465delinsCT (p.Leu822=) c.2215_2216delinsCT (p.Leu739=) n.2649_2650delinsCT c.2473_2474delinsCT (p.Leu825=) | |
| 4 | g.6302260_6302261dup | CA917120731 | WFS1 | c.2501_2502dup (p.Ile835SerfsTer?) c.2442_2443dup c.2465_2466dup (p.Ile823SerfsTer?) c.2216_2217dup (p.Ile740SerfsTer?) n.2650_2651dup c.2474_2475dup (p.Ile826SerfsTer?) | dbSNP |
| 4 | g.6302260del | CA549707949 | WFS1 | c.2501del (p.Leu834ProfsTer?) c.2442del c.2465del (p.Leu822ProfsTer?) c.2216del (p.Leu739ProfsTer?) n.2650del c.2474del (p.Leu825ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302260T>A | CA356178631 | WFS1 | c.2501T>A (p.Leu834His) c.2442T>A c.2465T>A (p.Leu822His) c.2216T>A (p.Leu739His) n.2650T>A c.2474T>A (p.Leu825His) | |
| 4 | g.6302260T>C | CA356178632 | WFS1 | c.2501T>C (p.Leu834Pro) c.2442T>C c.2465T>C (p.Leu822Pro) c.2216T>C (p.Leu739Pro) n.2650T>C c.2474T>C (p.Leu825Pro) | |
| 4 | g.6302260T>G | CA356178633 | WFS1 | c.2501T>G (p.Leu834Arg) c.2442T>G c.2465T>G (p.Leu822Arg) c.2216T>G (p.Leu739Arg) n.2650T>G c.2474T>G (p.Leu825Arg) | |
| 4 | g.6302262_6302264del | CA2586973652 | WFS1 | c.2503_2505del (p.Ile835del) c.2444_2446del c.2467_2469del (p.Ile823del) c.2218_2220del (p.Ile740del) n.2652_2654del c.2476_2478del (p.Ile826del) | |
| 4 | g.6302261C>A | CA2839749 | WFS1 | c.2502C>A (p.Leu834=) c.2443C>A c.2466C>A (p.Leu822=) c.2217C>A (p.Leu739=) n.2651C>A c.2475C>A (p.Leu825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |