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 |
|---|---|---|---|---|---|
| 2 | g.233773142_233773206del | CA2663720380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*583_*647del (n.*583_*647del) c.2188_2252del (n.2188_2252del) c.2176_2240del (n.2176_2240del) | gnomAD v4 |
| 2 | g.233773203A= | CA1335897404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*644A= (n.*644A=) c.2249A= (n.2249A=) c.2237A= (n.2237A=) | |
| 2 | g.233773203A>T | CA540073924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*644A>T (n.*644A>T) c.2249A>T (n.2249A>T) c.2237A>T (n.2237A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233773207A= | CA1335897405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*648A= (n.*648A=) c.2253A= (n.2253A=) c.2241A= (n.2241A=) | |
| 2 | g.233773207A>G | CA766293698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*648A>G (n.*648A>G) c.2253A>G (n.2253A>G) c.2241A>G (n.2241A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773209C= | CA1335897406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*650C= (n.*650C=) c.2255C= (n.2255C=) c.2243C= (n.2243C=) | |
| 2 | g.233773209C>G | CA1335897407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*650C>G (n.*650C>G) c.2255C>G (n.2255C>G) c.2243C>G (n.2243C>G) | dbSNP |
| 2 | g.233773216A= | CA1335897408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*657A= (n.*657A=) c.2262A= (n.2262A=) c.2250A= (n.2250A=) | |
| 2 | g.233773216A>G | CA67600305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*657A>G (n.*657A>G) c.2262A>G (n.2262A>G) c.2250A>G (n.2250A>G) | dbSNP |
| 2 | g.233773217C>T | CA2663720411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*658C>T (n.*658C>T) c.2263C>T (n.2263C>T) c.2251C>T (n.2251C>T) | dbSNP gnomAD v4 |
| 2 | g.233773218A>G | CA2663720412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*659A>G (n.*659A>G) c.2264A>G (n.2264A>G) c.2252A>G (n.2252A>G) | gnomAD v4 |
| 2 | g.233773219G>T | CA2663720414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*660G>T (n.*660G>T) c.2265G>T (n.2265G>T) c.2253G>T (n.2253G>T) | gnomAD v4 |
| 2 | g.233773220C>A | CA2663720415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*661C>A (n.*661C>A) c.2266C>A (n.2266C>A) c.2254C>A (n.2254C>A) | gnomAD v4 |
| 2 | g.233773221T>C | CA540073927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*662T>C (n.*662T>C) c.2267T>C (n.2267T>C) c.2255T>C (n.2255T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233773221T= | CA1335897409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*662T= (n.*662T=) c.2267T= (n.2267T=) c.2255T= (n.2255T=) | |
| 2 | g.233773222A= | CA1335897410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*663A= (n.*663A=) c.2268A= (n.2268A=) c.2256A= (n.2256A=) | |
| 2 | g.233773222A>G | CA766293703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*663A>G (n.*663A>G) c.2268A>G (n.2268A>G) c.2256A>G (n.2256A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773226A= | CA1335897411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*667A= (n.*667A=) c.2272A= (n.2272A=) c.2260A= (n.2260A=) | |
| 2 | g.233773226A>C | CA67600306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*667A>C (n.*667A>C) c.2272A>C (n.2272A>C) c.2260A>C (n.2260A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773228T>C | CA67600307 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*669T>C (n.*669T>C) c.2274T>C (n.2274T>C) c.2262T>C (n.2262T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773228T= | CA1335897412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*669T= (n.*669T=) c.2274T= (n.2274T=) c.2262T= (n.2262T=) | |
| 2 | g.233773229G= | CA1335897413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*670G= (n.*670G=) c.2275G= (n.2275G=) c.2263G= (n.2263G=) | |
| 2 | g.233773229G>T | CA67600312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*670G>T (n.*670G>T) c.2275G>T (n.2275G>T) c.2263G>T (n.2263G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773232G>A | CA67600315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*673G>A (n.*673G>A) c.2278G>A (n.2278G>A) c.2266G>A (n.2266G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233773232G= | CA1335897414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*673G= (n.*673G=) c.2278G= (n.2278G=) c.2266G= (n.2266G=) | |
| 2 | g.233773233G>A | CA766293707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*674G>A (n.*674G>A) c.2279G>A (n.2279G>A) c.2267G>A (n.2267G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773233G= | CA1335897415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*674G= (n.*674G=) c.2279G= (n.2279G=) c.2267G= (n.2267G=) | |
| 2 | g.233773233G>T | CA2663720416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*674G>T (n.*674G>T) c.2279G>T (n.2279G>T) c.2267G>T (n.2267G>T) | gnomAD v4 |
| 2 | g.233773236A>G | CA2754693626 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*677A>G (n.*677A>G) c.2282A>G (n.2282A>G) c.2270A>G (n.2270A>G) | |
| 2 | g.233773242A= | CA1335897416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*683A= (n.*683A=) c.2288A= (n.2288A=) c.2276A= (n.2276A=) | |
| 2 | g.233773242A>C | CA67600316 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*683A>C (n.*683A>C) c.2288A>C (n.2288A>C) c.2276A>C (n.2276A>C) | dbSNP |
| 2 | g.233773243_233773244delinsCT | CA1335897417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*684_*685delinsCT (n.*684_*685delinsCT) c.2289_2290delinsCT (n.2289_2290delinsCT) c.2277_2278delinsCT (n.2277_2278delinsCT) | |
| 2 | g.233773244T>C | CA766293709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*685T>C (n.*685T>C) c.2290T>C (n.2290T>C) c.2278T>C (n.2278T>C) | dbSNP |
| 2 | g.233773244T= | CA1335897418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*685T= (n.*685T=) c.2290T= (n.2290T=) c.2278T= (n.2278T=) | |
| 2 | g.233773250dup | CA766293710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*691dup (n.*691dup) c.2296dup (n.2296dup) c.2284dup (n.2284dup) | dbSNP |
| 2 | g.233773250del | CA540073931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*691del (n.*691del) c.2296del (n.2296del) c.2284del (n.2284del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233773245T>C | CA1335897420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*686T>C (n.*686T>C) c.2291T>C (n.2291T>C) c.2279T>C (n.2279T>C) | dbSNP |
| 2 | g.233773245T>G | CA1335897421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*686T>G (n.*686T>G) c.2291T>G (n.2291T>G) c.2279T>G (n.2279T>G) | dbSNP |
| 2 | g.233773245T= | CA1335897419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*686T= (n.*686T=) c.2291T= (n.2291T=) c.2279T= (n.2279T=) | |
| 2 | g.233773246T>C | CA766293711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*687T>C (n.*687T>C) c.2292T>C (n.2292T>C) c.2280T>C (n.2280T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773246T= | CA1335897422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*687T= (n.*687T=) c.2292T= (n.2292T=) c.2280T= (n.2280T=) | |
| 2 | g.233773247T>C | CA540073933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*688T>C (n.*688T>C) c.2293T>C (n.2293T>C) c.2281T>C (n.2281T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233773247T= | CA1335897423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*688T= (n.*688T=) c.2293T= (n.2293T=) c.2281T= (n.2281T=) | |
| 2 | g.233773250T>A | CA67600317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*691T>A (n.*691T>A) c.2296T>A (n.2296T>A) c.2284T>A (n.2284T>A) | dbSNP |
| 2 | g.233773250T>C | CA67600332 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*691T>C (n.*691T>C) c.2296T>C (n.2296T>C) c.2284T>C (n.2284T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233773250T= | CA1335897424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*691T= (n.*691T=) c.2296T= (n.2296T=) c.2284T= (n.2284T=) | |
| 2 | g.233773251C= | CA1335897425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*692C= (n.*692C=) c.2297C= (n.2297C=) c.2285C= (n.2285C=) | |
| 2 | g.233773251C>T | CA67600340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*692C>T (n.*692C>T) c.2297C>T (n.2297C>T) c.2285C>T (n.2285C>T) | dbSNP |
| 2 | g.233773253del | CA2663720417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*694del (n.*694del) c.2299del (n.2299del) c.2287del (n.2287del) | gnomAD v4 |
| 2 | g.233773256G>C | CA766293719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.*697G>C (n.*697G>C) c.2302G>C (n.2302G>C) c.2290G>C (n.2290G>C) | dbSNP |