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 |
|---|---|---|---|---|---|
| 17 | g.44926109_44926132delinsCTGAGAGTGCTCTCCCCACCCTGA | CA2261618630 | KIF18B | c.2507_2530delinsTCAGGGTGGGGAGAGCACTCTCAG (p.Ile836=) c.*268_*291delinsTCAGGGTGGGGAGAGCACTCTCAG (n.*268_*291delinsTCAGGGTGGGGAGAGCACTCTCAG) c.2570_2593delinsTCAGGGTGGGGAGAGCACTCTCAG (p.Ile857=) c.2543_2566delinsTCAGGGTGGGGAGAGCACTCTCAG (p.Ile848=) c.2534_2557delinsTCAGGGTGGGGAGAGCACTCTCAG (p.Ile845=) c.2465_2488delinsTCAGGGTGGGGAGAGCACTCTCAG (p.Ile822=) | |
| 17 | g.44926114_44926136del | CA8609169 | KIF18B | c.2507_2529del (p.Ile836SerfsTer16) c.*268_*290del (n.*268_*290del) c.2570_2592del (p.Ile857SerfsTer16) c.2543_2565del (p.Ile848SerfsTer16) c.2534_2556del (p.Ile845SerfsTer16) c.2465_2487del (p.Ile822SerfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44926116T>A | CA500312489 | KIF18B | c.2523A>T (p.Ala841=) c.*284A>T (n.*284A>T) c.2586A>T (p.Ala862=) c.2559A>T (p.Ala853=) c.2550A>T (p.Ala850=) c.2481A>T (p.Ala827=) | |
| 17 | g.44926116T>C | CA8609172 | KIF18B | c.2523A>G (p.Ala841=) c.*284A>G (n.*284A>G) c.2586A>G (p.Ala862=) c.2559A>G (p.Ala853=) c.2550A>G (p.Ala850=) c.2481A>G (p.Ala827=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44926116T>G | CA500312490 | KIF18B | c.2523A>C (p.Ala841=) c.*284A>C (n.*284A>C) c.2586A>C (p.Ala862=) c.2559A>C (p.Ala853=) c.2550A>C (p.Ala850=) c.2481A>C (p.Ala827=) | gnomAD v3 gnomAD v4 |
| 17 | g.44926116T= | CA2261618636 | KIF18B | c.2523A= (p.Ala841=) c.*284A= (n.*284A=) c.2586A= (p.Ala862=) c.2559A= (p.Ala853=) c.2550A= (p.Ala850=) c.2481A= (p.Ala827=) | |
| 17 | g.44926117G>A | CA8609173 | KIF18B | c.2522C>T (p.Ala841Val) c.*283C>T (n.*283C>T) c.2585C>T (p.Ala862Val) c.2558C>T (p.Ala853Val) c.2549C>T (p.Ala850Val) c.2480C>T (p.Ala827Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44926117G>C | CA399811100 | KIF18B | c.2522C>G (p.Ala841Gly) c.*283C>G (n.*283C>G) c.2585C>G (p.Ala862Gly) c.2558C>G (p.Ala853Gly) c.2549C>G (p.Ala850Gly) c.2480C>G (p.Ala827Gly) | |
| 17 | g.44926117G= | CA2261618637 | KIF18B | c.2522C= (p.Ala841=) c.*283C= (n.*283C=) c.2585C= (p.Ala862=) c.2558C= (p.Ala853=) c.2549C= (p.Ala850=) c.2480C= (p.Ala827=) | |
| 17 | g.44926117G>T | CA399811099 | KIF18B | c.2522C>A (p.Ala841Glu) c.*283C>A (n.*283C>A) c.2585C>A (p.Ala862Glu) c.2558C>A (p.Ala853Glu) c.2549C>A (p.Ala850Glu) c.2480C>A (p.Ala827Glu) | |
| 17 | g.44926118C>A | CA399811102 | KIF18B | c.2521G>T (p.Ala841Ser) c.*282G>T (n.*282G>T) c.2584G>T (p.Ala862Ser) c.2557G>T (p.Ala853Ser) c.2548G>T (p.Ala850Ser) c.2479G>T (p.Ala827Ser) | |
| 17 | g.44926118C>G | CA399811104 | KIF18B | c.2521G>C (p.Ala841Pro) c.*282G>C (n.*282G>C) c.2584G>C (p.Ala862Pro) c.2557G>C (p.Ala853Pro) c.2548G>C (p.Ala850Pro) c.2479G>C (p.Ala827Pro) | |
| 17 | g.44926118C>T | CA399811105 | KIF18B | c.2521G>A (p.Ala841Thr) c.*282G>A (n.*282G>A) c.2584G>A (p.Ala862Thr) c.2557G>A (p.Ala853Thr) c.2548G>A (p.Ala850Thr) c.2479G>A (p.Ala827Thr) | |
| 17 | g.44926119T>A | CA399811107 | KIF18B | c.2520A>T (p.Arg840Ser) c.*281A>T (n.*281A>T) c.2583A>T (p.Arg861Ser) c.2556A>T (p.Arg852Ser) c.2547A>T (p.Arg849Ser) c.2478A>T (p.Arg826Ser) | |
| 17 | g.44926119T>C | CA500312491 | KIF18B | c.2520A>G (p.Arg840=) c.*281A>G (n.*281A>G) c.2583A>G (p.Arg861=) c.2556A>G (p.Arg852=) c.2547A>G (p.Arg849=) c.2478A>G (p.Arg826=) | dbSNP |
| 17 | g.44926119T>G | CA399811108 | KIF18B | c.2520A>C (p.Arg840Ser) c.*281A>C (n.*281A>C) c.2583A>C (p.Arg861Ser) c.2556A>C (p.Arg852Ser) c.2547A>C (p.Arg849Ser) c.2478A>C (p.Arg826Ser) | |
| 17 | g.44926120C>A | CA399811113 | KIF18B | c.2519G>T (p.Arg840Ile) c.*280G>T (n.*280G>T) c.2582G>T (p.Arg861Ile) c.2555G>T (p.Arg852Ile) c.2546G>T (p.Arg849Ile) c.2477G>T (p.Arg826Ile) | |
| 17 | g.44926120C>G | CA399811110 | KIF18B | c.2519G>C (p.Arg840Thr) c.*280G>C (n.*280G>C) c.2582G>C (p.Arg861Thr) c.2555G>C (p.Arg852Thr) c.2546G>C (p.Arg849Thr) c.2477G>C (p.Arg826Thr) | |
| 17 | g.44926120C>T | CA399811112 | KIF18B | c.2519G>A (p.Arg840Lys) c.*280G>A (n.*280G>A) c.2582G>A (p.Arg861Lys) c.2555G>A (p.Arg852Lys) c.2546G>A (p.Arg849Lys) c.2477G>A (p.Arg826Lys) | |
| 17 | g.44926121T>A | CA399811115 | KIF18B | c.2518A>T (p.Arg840Ter) c.*279A>T (n.*279A>T) c.2581A>T (p.Arg861Ter) c.2554A>T (p.Arg852Ter) c.2545A>T (p.Arg849Ter) c.2476A>T (p.Arg826Ter) | |
| 17 | g.44926121T>C | CA399811116 | KIF18B | c.2518A>G (p.Arg840Gly) c.*279A>G (n.*279A>G) c.2581A>G (p.Arg861Gly) c.2554A>G (p.Arg852Gly) c.2545A>G (p.Arg849Gly) c.2476A>G (p.Arg826Gly) | |
| 17 | g.44926121T>G | CA500312492 | KIF18B | c.2518A>C (p.Arg840=) c.*279A>C (n.*279A>C) c.2581A>C (p.Arg861=) c.2554A>C (p.Arg852=) c.2545A>C (p.Arg849=) c.2476A>C (p.Arg826=) | |
| 17 | g.44926122C>A | CA500312493 | KIF18B | c.2517G>T (p.Gly839=) c.*278G>T (n.*278G>T) c.2580G>T (p.Gly860=) c.2553G>T (p.Gly851=) c.2544G>T (p.Gly848=) c.2475G>T (p.Gly825=) | |
| 17 | g.44926122C= | CA2261618638 | KIF18B | c.2517G= (p.Gly839=) c.*278G= (n.*278G=) c.2580G= (p.Gly860=) c.2553G= (p.Gly851=) c.2544G= (p.Gly848=) c.2475G= (p.Gly825=) | |
| 17 | g.44926122C>G | CA500312494 | KIF18B | c.2517G>C (p.Gly839=) c.*278G>C (n.*278G>C) c.2580G>C (p.Gly860=) c.2553G>C (p.Gly851=) c.2544G>C (p.Gly848=) c.2475G>C (p.Gly825=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44926122C>T | CA500312495 | KIF18B | c.2517G>A (p.Gly839=) c.*278G>A (n.*278G>A) c.2580G>A (p.Gly860=) c.2553G>A (p.Gly851=) c.2544G>A (p.Gly848=) c.2475G>A (p.Gly825=) | |
| 17 | g.44926123C>A | CA399811118 | KIF18B | c.2516G>T (p.Gly839Val) c.*277G>T (n.*277G>T) c.2579G>T (p.Gly860Val) c.2552G>T (p.Gly851Val) c.2543G>T (p.Gly848Val) c.2474G>T (p.Gly825Val) | gnomAD v4 |
| 17 | g.44926123C>G | CA399811120 | KIF18B | c.2516G>C (p.Gly839Ala) c.*277G>C (n.*277G>C) c.2579G>C (p.Gly860Ala) c.2552G>C (p.Gly851Ala) c.2543G>C (p.Gly848Ala) c.2474G>C (p.Gly825Ala) | gnomAD v4 |
| 17 | g.44926123C>T | CA399811121 | KIF18B | c.2516G>A (p.Gly839Glu) c.*277G>A (n.*277G>A) c.2579G>A (p.Gly860Glu) c.2552G>A (p.Gly851Glu) c.2543G>A (p.Gly848Glu) c.2474G>A (p.Gly825Glu) | |
| 17 | g.44926124C>A | CA8609174 | KIF18B | c.2515G>T (p.Gly839Trp) c.*276G>T (n.*276G>T) c.2578G>T (p.Gly860Trp) c.2551G>T (p.Gly851Trp) c.2542G>T (p.Gly848Trp) c.2473G>T (p.Gly825Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44926124C= | CA2261618639 | KIF18B | c.2515G= (p.Gly839=) c.*276G= (n.*276G=) c.2578G= (p.Gly860=) c.2551G= (p.Gly851=) c.2542G= (p.Gly848=) c.2473G= (p.Gly825=) | |
| 17 | g.44926124C>G | CA399811125 | KIF18B | c.2515G>C (p.Gly839Arg) c.*276G>C (n.*276G>C) c.2578G>C (p.Gly860Arg) c.2551G>C (p.Gly851Arg) c.2542G>C (p.Gly848Arg) c.2473G>C (p.Gly825Arg) | |
| 17 | g.44926124C>T | CA399811123 | KIF18B | c.2515G>A (p.Gly839Arg) c.*276G>A (n.*276G>A) c.2578G>A (p.Gly860Arg) c.2551G>A (p.Gly851Arg) c.2542G>A (p.Gly848Arg) c.2473G>A (p.Gly825Arg) | gnomAD v4 |
| 17 | g.44926125C>A | CA8609175 | KIF18B | c.2514G>T (p.Val838=) c.*275G>T (n.*275G>T) c.2577G>T (p.Val859=) c.2550G>T (p.Val850=) c.2541G>T (p.Val847=) c.2472G>T (p.Val824=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44926125C= | CA2261618640 | KIF18B | c.2514G= (p.Val838=) c.*275G= (n.*275G=) c.2577G= (p.Val859=) c.2550G= (p.Val850=) c.2541G= (p.Val847=) c.2472G= (p.Val824=) | |
| 17 | g.44926125C>G | CA500312496 | KIF18B | c.2514G>C (p.Val838=) c.*275G>C (n.*275G>C) c.2577G>C (p.Val859=) c.2550G>C (p.Val850=) c.2541G>C (p.Val847=) c.2472G>C (p.Val824=) | dbSNP |
| 17 | g.44926125C>T | CA500312497 | KIF18B | c.2514G>A (p.Val838=) c.*275G>A (n.*275G>A) c.2577G>A (p.Val859=) c.2550G>A (p.Val850=) c.2541G>A (p.Val847=) c.2472G>A (p.Val824=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44926126A= | CA2261618641 | KIF18B | c.2513T= (p.Val838=) c.*274T= (n.*274T=) c.2576T= (p.Val859=) c.2549T= (p.Val850=) c.2540T= (p.Val847=) c.2471T= (p.Val824=) | |
| 17 | g.44926126A>C | CA399811127 | KIF18B | c.2513T>G (p.Val838Gly) c.*274T>G (n.*274T>G) c.2576T>G (p.Val859Gly) c.2549T>G (p.Val850Gly) c.2540T>G (p.Val847Gly) c.2471T>G (p.Val824Gly) | |
| 17 | g.44926126A>G | CA399811129 | KIF18B | c.2513T>C (p.Val838Ala) c.*274T>C (n.*274T>C) c.2576T>C (p.Val859Ala) c.2549T>C (p.Val850Ala) c.2540T>C (p.Val847Ala) c.2471T>C (p.Val824Ala) | |
| 17 | g.44926126A>T | CA399811130 | KIF18B | c.2513T>A (p.Val838Glu) c.*274T>A (n.*274T>A) c.2576T>A (p.Val859Glu) c.2549T>A (p.Val850Glu) c.2540T>A (p.Val847Glu) c.2471T>A (p.Val824Glu) | |
| 17 | g.44926127C>A | CA8609176 | KIF18B | c.2512G>T (p.Val838Leu) c.*273G>T (n.*273G>T) c.2575G>T (p.Val859Leu) c.2548G>T (p.Val850Leu) c.2539G>T (p.Val847Leu) c.2470G>T (p.Val824Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44926127C= | CA2261618643 | KIF18B | c.2512G= (p.Val838=) c.*273G= (n.*273G=) c.2575G= (p.Val859=) c.2548G= (p.Val850=) c.2539G= (p.Val847=) c.2470G= (p.Val824=) | |
| 17 | g.44926127C>G | CA399811132 | KIF18B | c.2512G>C (p.Val838Leu) c.*273G>C (n.*273G>C) c.2575G>C (p.Val859Leu) c.2548G>C (p.Val850Leu) c.2539G>C (p.Val847Leu) c.2470G>C (p.Val824Leu) | |
| 17 | g.44926127C>T | CA8609177 | KIF18B | c.2512G>A (p.Val838Met) c.*273G>A (n.*273G>A) c.2575G>A (p.Val859Met) c.2548G>A (p.Val850Met) c.2539G>A (p.Val847Met) c.2470G>A (p.Val824Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44926129dup | CA2261618642 | KIF18B | c.2512dup (p.Val838GlyfsTer22) c.*273dup (n.*273dup) c.2575dup (p.Val859GlyfsTer22) c.2548dup (p.Val850GlyfsTer22) c.2539dup (p.Val847GlyfsTer22) c.2470dup (p.Val824GlyfsTer22) | dbSNP |
| 17 | g.44926128C>A | CA399811133 | KIF18B | c.2511G>T (p.Arg837Ser) c.*272G>T (n.*272G>T) c.2574G>T (p.Arg858Ser) c.2547G>T (p.Arg849Ser) c.2538G>T (p.Arg846Ser) c.2469G>T (p.Arg823Ser) | gnomAD v4 |
| 17 | g.44926128C>G | CA399811135 | KIF18B | c.2511G>C (p.Arg837Ser) c.*272G>C (n.*272G>C) c.2574G>C (p.Arg858Ser) c.2547G>C (p.Arg849Ser) c.2538G>C (p.Arg846Ser) c.2469G>C (p.Arg823Ser) | gnomAD v4 |
| 17 | g.44926128C>T | CA500312498 | KIF18B | c.2511G>A (p.Arg837=) c.*272G>A (n.*272G>A) c.2574G>A (p.Arg858=) c.2547G>A (p.Arg849=) c.2538G>A (p.Arg846=) c.2469G>A (p.Arg823=) | |
| 17 | g.44926129C>A | CA399811137 | KIF18B | c.2510G>T (p.Arg837Met) c.*271G>T (n.*271G>T) c.2573G>T (p.Arg858Met) c.2546G>T (p.Arg849Met) c.2537G>T (p.Arg846Met) c.2468G>T (p.Arg823Met) |