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 |
|---|---|---|---|---|---|
| 12 | g.34026832G>A | CA253872 | ALG10 | c.1339G>A (p.Val447Ile) c.369+2673G>A (n.369+2673G>A) c.*1079G>A (n.*1079G>A) c.1159G>A (p.Val387Ile) | ClinVar dbSNP gnomAD v4 |
| 12 | g.34026832G>C | CA384387368 | ALG10 | c.1339G>C (p.Val447Leu) c.369+2673G>C (n.369+2673G>C) c.*1079G>C (n.*1079G>C) c.1159G>C (p.Val387Leu) | |
| 12 | g.34026832G= | CA2026936852 | ALG10 | c.1339G= (p.Val447=) c.369+2673G= (n.369+2673G=) c.*1079G= (n.*1079G=) c.1159G= (p.Val387=) | |
| 12 | g.34026832G>T | CA384387370 | ALG10 | c.1339G>T (p.Val447Phe) c.369+2673G>T (n.369+2673G>T) c.*1079G>T (n.*1079G>T) c.1159G>T (p.Val387Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.34026833T>A | CA384387380 | ALG10 | c.1340T>A (p.Val447Asp) c.369+2674T>A (n.369+2674T>A) c.*1080T>A (n.*1080T>A) c.1160T>A (p.Val387Asp) | |
| 12 | g.34026833T>C | CA384387375 | ALG10 | c.1340T>C (p.Val447Ala) c.369+2674T>C (n.369+2674T>C) c.*1080T>C (n.*1080T>C) c.1160T>C (p.Val387Ala) | |
| 12 | g.34026833T>G | CA384387377 | ALG10 | c.1340T>G (p.Val447Gly) c.369+2674T>G (n.369+2674T>G) c.*1080T>G (n.*1080T>G) c.1160T>G (p.Val387Gly) | |
| 12 | g.34026834T>A | CA479228622 | ALG10 | c.1341T>A (p.Val447=) c.369+2675T>A (n.369+2675T>A) c.*1081T>A (n.*1081T>A) c.1161T>A (p.Val387=) | |
| 12 | g.34026834T>C | CA479228623 | ALG10 | c.1341T>C (p.Val447=) c.369+2675T>C (n.369+2675T>C) c.*1081T>C (n.*1081T>C) c.1161T>C (p.Val387=) | |
| 12 | g.34026834T>G | CA479228624 | ALG10 | c.1341T>G (p.Val447=) c.369+2675T>G (n.369+2675T>G) c.*1081T>G (n.*1081T>G) c.1161T>G (p.Val387=) | |
| 12 | g.34026835A>C | CA384387383 | ALG10 | c.1342A>C (p.Asn448His) c.369+2676A>C (n.369+2676A>C) c.*1082A>C (n.*1082A>C) c.1162A>C (p.Asn388His) | |
| 12 | g.34026835A>G | CA384387384 | ALG10 | c.1342A>G (p.Asn448Asp) c.369+2676A>G (n.369+2676A>G) c.*1082A>G (n.*1082A>G) c.1162A>G (p.Asn388Asp) | |
| 12 | g.34026835A>T | CA384387386 | ALG10 | c.1342A>T (p.Asn448Tyr) c.369+2676A>T (n.369+2676A>T) c.*1082A>T (n.*1082A>T) c.1162A>T (p.Asn388Tyr) | |
| 12 | g.34026836A>C | CA384387393 | ALG10 | c.1343A>C (p.Asn448Thr) c.369+2677A>C (n.369+2677A>C) c.*1083A>C (n.*1083A>C) c.1163A>C (p.Asn388Thr) | |
| 12 | g.34026836A>G | CA384387395 | ALG10 | c.1343A>G (p.Asn448Ser) c.369+2677A>G (n.369+2677A>G) c.*1083A>G (n.*1083A>G) c.1163A>G (p.Asn388Ser) | |
| 12 | g.34026836A>T | CA384387396 | ALG10 | c.1343A>T (p.Asn448Ile) c.369+2677A>T (n.369+2677A>T) c.*1083A>T (n.*1083A>T) c.1163A>T (p.Asn388Ile) | |
| 12 | g.34026837T>A | CA384387398 | ALG10 | c.1344T>A (p.Asn448Lys) c.369+2678T>A (n.369+2678T>A) c.*1084T>A (n.*1084T>A) c.1164T>A (p.Asn388Lys) | |
| 12 | g.34026837T>C | CA479228628 | ALG10 | c.1344T>C (p.Asn448=) c.369+2678T>C (n.369+2678T>C) c.*1084T>C (n.*1084T>C) c.1164T>C (p.Asn388=) | |
| 12 | g.34026837T>G | CA384387399 | ALG10 | c.1344T>G (p.Asn448Lys) c.369+2678T>G (n.369+2678T>G) c.*1084T>G (n.*1084T>G) c.1164T>G (p.Asn388Lys) | |
| 12 | g.34026838T>A | CA384387404 | ALG10 | c.1345T>A (p.Phe449Ile) c.369+2679T>A (n.369+2679T>A) c.*1085T>A (n.*1085T>A) c.1165T>A (p.Phe389Ile) | |
| 12 | g.34026838T>C | CA384387406 | ALG10 | c.1345T>C (p.Phe449Leu) c.369+2679T>C (n.369+2679T>C) c.*1085T>C (n.*1085T>C) c.1165T>C (p.Phe389Leu) | |
| 12 | g.34026838T>G | CA384387410 | ALG10 | c.1345T>G (p.Phe449Val) c.369+2679T>G (n.369+2679T>G) c.*1085T>G (n.*1085T>G) c.1165T>G (p.Phe389Val) | |
| 12 | g.34026839T>A | CA384387417 | ALG10 | c.1346T>A (p.Phe449Tyr) c.369+2680T>A (n.369+2680T>A) c.*1086T>A (n.*1086T>A) c.1166T>A (p.Phe389Tyr) | |
| 12 | g.34026839T>C | CA384387416 | ALG10 | c.1346T>C (p.Phe449Ser) c.369+2680T>C (n.369+2680T>C) c.*1086T>C (n.*1086T>C) c.1166T>C (p.Phe389Ser) | gnomAD v4 |
| 12 | g.34026839T>G | CA384387413 | ALG10 | c.1346T>G (p.Phe449Cys) c.369+2680T>G (n.369+2680T>G) c.*1086T>G (n.*1086T>G) c.1166T>G (p.Phe389Cys) | |
| 12 | g.34026840C>A | CA384387418 | ALG10 | c.1347C>A (p.Phe449Leu) c.369+2681C>A (n.369+2681C>A) c.*1087C>A (n.*1087C>A) c.1167C>A (p.Phe389Leu) | |
| 12 | g.34026840C>G | CA384387419 | ALG10 | c.1347C>G (p.Phe449Leu) c.369+2681C>G (n.369+2681C>G) c.*1087C>G (n.*1087C>G) c.1167C>G (p.Phe389Leu) | |
| 12 | g.34026840C>T | CA479228632 | ALG10 | c.1347C>T (p.Phe449=) c.369+2681C>T (n.369+2681C>T) c.*1087C>T (n.*1087C>T) c.1167C>T (p.Phe389=) | |
| 12 | g.34026841A>C | CA384387420 | ALG10 | c.1348A>C (p.Ile450Leu) c.369+2682A>C (n.369+2682A>C) c.*1088A>C (n.*1088A>C) c.1168A>C (p.Ile390Leu) | |
| 12 | g.34026841A>G | CA384387421 | ALG10 | c.1348A>G (p.Ile450Val) c.369+2682A>G (n.369+2682A>G) c.*1088A>G (n.*1088A>G) c.1168A>G (p.Ile390Val) | |
| 12 | g.34026841A>T | CA384387423 | ALG10 | c.1348A>T (p.Ile450Leu) c.369+2682A>T (n.369+2682A>T) c.*1088A>T (n.*1088A>T) c.1168A>T (p.Ile390Leu) | |
| 12 | g.34026842T>A | CA384387430 | ALG10 | c.1349T>A (p.Ile450Lys) c.369+2683T>A (n.369+2683T>A) c.*1089T>A (n.*1089T>A) c.1169T>A (p.Ile390Lys) | |
| 12 | g.34026842T>C | CA384387432 | ALG10 | c.1349T>C (p.Ile450Thr) c.369+2683T>C (n.369+2683T>C) c.*1089T>C (n.*1089T>C) c.1169T>C (p.Ile390Thr) | gnomAD v4 |
| 12 | g.34026842T>G | CA384387433 | ALG10 | c.1349T>G (p.Ile450Arg) c.369+2683T>G (n.369+2683T>G) c.*1089T>G (n.*1089T>G) c.1169T>G (p.Ile390Arg) | |
| 12 | g.34026843A>C | CA479228634 | ALG10 | c.1350A>C (p.Ile450=) c.369+2684A>C (n.369+2684A>C) c.*1090A>C (n.*1090A>C) c.1170A>C (p.Ile390=) | |
| 12 | g.34026843A>G | CA384387438 | ALG10 | c.1350A>G (p.Ile450Met) c.369+2684A>G (n.369+2684A>G) c.*1090A>G (n.*1090A>G) c.1170A>G (p.Ile390Met) | |
| 12 | g.34026843A>T | CA479228633 | ALG10 | c.1350A>T (p.Ile450=) c.369+2684A>T (n.369+2684A>T) c.*1090A>T (n.*1090A>T) c.1170A>T (p.Ile390=) | |
| 12 | g.34026844A>C | CA384387441 | ALG10 | c.1351A>C (p.Thr451Pro) c.369+2685A>C (n.369+2685A>C) c.*1091A>C (n.*1091A>C) c.1171A>C (p.Thr391Pro) | gnomAD v4 |
| 12 | g.34026844A>G | CA384387444 | ALG10 | c.1351A>G (p.Thr451Ala) c.369+2685A>G (n.369+2685A>G) c.*1091A>G (n.*1091A>G) c.1171A>G (p.Thr391Ala) | gnomAD v4 |
| 12 | g.34026844A>T | CA384387446 | ALG10 | c.1351A>T (p.Thr451Ser) c.369+2685A>T (n.369+2685A>T) c.*1091A>T (n.*1091A>T) c.1171A>T (p.Thr391Ser) | |
| 12 | g.34026845C>A | CA384387456 | ALG10 | c.1352C>A (p.Thr451Asn) c.369+2686C>A (n.369+2686C>A) c.*1092C>A (n.*1092C>A) c.1172C>A (p.Thr391Asn) | |
| 12 | g.34026845C= | CA2026936858 | ALG10 | c.1352C= (p.Thr451=) c.369+2686C= (n.369+2686C=) c.*1092C= (n.*1092C=) c.1172C= (p.Thr391=) | |
| 12 | g.34026845C>G | CA384387453 | ALG10 | c.1352C>G (p.Thr451Ser) c.369+2686C>G (n.369+2686C>G) c.*1092C>G (n.*1092C>G) c.1172C>G (p.Thr391Ser) | gnomAD v4 |
| 12 | g.34026845C>T | CA384387449 | ALG10 | c.1352C>T (p.Thr451Ile) c.369+2686C>T (n.369+2686C>T) c.*1092C>T (n.*1092C>T) c.1172C>T (p.Thr391Ile) | |
| 12 | g.34026845_34026847dup | CA2618232869 | ALG10 | c.1352_1354dup (p.Thr451_Phe452insSer) c.369+2686_369+2688dup (n.369+2686_369+2688dup) c.*1092_*1094dup (n.*1092_*1094dup) c.1172_1174dup (p.Thr391_Phe392insSer) | gnomAD v4 |
| 12 | g.34026846T>A | CA479228636 | ALG10 | c.1353T>A (p.Thr451=) c.369+2687T>A (n.369+2687T>A) c.*1093T>A (n.*1093T>A) c.1173T>A (p.Thr391=) | gnomAD v4 |
| 12 | g.34026846T>C | CA479228637 | ALG10 | c.1353T>C (p.Thr451=) c.369+2687T>C (n.369+2687T>C) c.*1093T>C (n.*1093T>C) c.1173T>C (p.Thr391=) | |
| 12 | g.34026846T>G | CA479228638 | ALG10 | c.1353T>G (p.Thr451=) c.369+2687T>G (n.369+2687T>G) c.*1093T>G (n.*1093T>G) c.1173T>G (p.Thr391=) | |
| 12 | g.34026851dup | CA6509065 | ALG10 | c.1358dup (p.Ile454HisfsTer12) c.369+2692dup (n.369+2692dup) c.*1098dup (n.*1098dup) c.1178dup (p.Ile394HisfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.34026847T>A | CA384387461 | ALG10 | c.1354T>A (p.Phe452Ile) c.369+2688T>A (n.369+2688T>A) c.*1094T>A (n.*1094T>A) c.1174T>A (p.Phe392Ile) |