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.101918145del | CA2671564686 | BANK1 | c.1162del (p.Arg388GlyfsTer21) c.763del (p.Arg255GlyfsTer21) c.1072del (p.Arg358GlyfsTer21) c.1117del (p.Arg373GlyfsTer21) | gnomAD v4 |
| 4 | g.101918145A= | CA1481138711 | BANK1 | c.1162A= (p.Arg388=) c.763A= (p.Arg255=) c.1072A= (p.Arg358=) c.1117A= (p.Arg373=) | |
| 4 | g.101918145A>C | CA440606643 | BANK1 | c.1162A>C (p.Arg388=) c.763A>C (p.Arg255=) c.1072A>C (p.Arg358=) c.1117A>C (p.Arg373=) | |
| 4 | g.101918145A>G | CA357956393 | BANK1 | c.1162A>G (p.Arg388Gly) c.763A>G (p.Arg255Gly) c.1072A>G (p.Arg358Gly) c.1117A>G (p.Arg373Gly) | dbSNP gnomAD v4 |
| 4 | g.101918145A>T | CA357956394 | BANK1 | c.1162A>T (p.Arg388Trp) c.763A>T (p.Arg255Trp) c.1072A>T (p.Arg358Trp) c.1117A>T (p.Arg373Trp) | |
| 4 | g.101918146G>A | CA357956395 | BANK1 | c.1163G>A (p.Arg388Lys) c.764G>A (p.Arg255Lys) c.1073G>A (p.Arg358Lys) c.1118G>A (p.Arg373Lys) | |
| 4 | g.101918146G>C | CA357956396 | BANK1 | c.1163G>C (p.Arg388Thr) c.764G>C (p.Arg255Thr) c.1073G>C (p.Arg358Thr) c.1118G>C (p.Arg373Thr) | |
| 4 | g.101918146G= | CA1481138712 | BANK1 | c.1163G= (p.Arg388=) c.764G= (p.Arg255=) c.1073G= (p.Arg358=) c.1118G= (p.Arg373=) | |
| 4 | g.101918146G>T | CA3025032 | BANK1 | c.1163G>T (p.Arg388Met) c.764G>T (p.Arg255Met) c.1073G>T (p.Arg358Met) c.1118G>T (p.Arg373Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918147G>A | CA440606644 | BANK1 | c.1164G>A (p.Arg388=) c.765G>A (p.Arg255=) c.1074G>A (p.Arg358=) c.1119G>A (p.Arg373=) | dbSNP gnomAD v4 |
| 4 | g.101918147G>C | CA357956397 | BANK1 | c.1164G>C (p.Arg388Ser) c.765G>C (p.Arg255Ser) c.1074G>C (p.Arg358Ser) c.1119G>C (p.Arg373Ser) | gnomAD v4 |
| 4 | g.101918147G>T | CA357956398 | BANK1 | c.1164G>T (p.Arg388Ser) c.765G>T (p.Arg255Ser) c.1074G>T (p.Arg358Ser) c.1119G>T (p.Arg373Ser) | |
| 4 | g.101918148C>A | CA357956399 | BANK1 | c.1165C>A (p.His389Asn) c.766C>A (p.His256Asn) c.1075C>A (p.His359Asn) c.1120C>A (p.His374Asn) | gnomAD v4 |
| 4 | g.101918148C= | CA1481138713 | BANK1 | c.1165C= (p.His389=) c.766C= (p.His256=) c.1075C= (p.His359=) c.1120C= (p.His374=) | |
| 4 | g.101918148C>G | CA357956400 | BANK1 | c.1165C>G (p.His389Asp) c.766C>G (p.His256Asp) c.1075C>G (p.His359Asp) c.1120C>G (p.His374Asp) | |
| 4 | g.101918148C>T | CA103070479 | BANK1 | c.1165C>T (p.His389Tyr) c.766C>T (p.His256Tyr) c.1075C>T (p.His359Tyr) c.1120C>T (p.His374Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918149A>C | CA357956401 | BANK1 | c.1166A>C (p.His389Pro) c.767A>C (p.His256Pro) c.1076A>C (p.His359Pro) c.1121A>C (p.His374Pro) | |
| 4 | g.101918149A>G | CA357956402 | BANK1 | c.1166A>G (p.His389Arg) c.767A>G (p.His256Arg) c.1076A>G (p.His359Arg) c.1121A>G (p.His374Arg) | |
| 4 | g.101918149A>T | CA357956403 | BANK1 | c.1166A>T (p.His389Leu) c.767A>T (p.His256Leu) c.1076A>T (p.His359Leu) c.1121A>T (p.His374Leu) | |
| 4 | g.101918150T>A | CA357956404 | BANK1 | c.1167T>A (p.His389Gln) c.768T>A (p.His256Gln) c.1077T>A (p.His359Gln) c.1122T>A (p.His374Gln) | |
| 4 | g.101918150T>C | CA103070480 | BANK1 | c.1167T>C (p.His389=) c.768T>C (p.His256=) c.1077T>C (p.His359=) c.1122T>C (p.His374=) | dbSNP gnomAD v4 |
| 4 | g.101918150T>G | CA357956405 | BANK1 | c.1167T>G (p.His389Gln) c.768T>G (p.His256Gln) c.1077T>G (p.His359Gln) c.1122T>G (p.His374Gln) | |
| 4 | g.101918150T= | CA1481138714 | BANK1 | c.1167T= (p.His389=) c.768T= (p.His256=) c.1077T= (p.His359=) c.1122T= (p.His374=) | |
| 4 | g.101918151G>A | CA357956406 | BANK1 | c.1168G>A (p.Gly390Ser) c.769G>A (p.Gly257Ser) c.1078G>A (p.Gly360Ser) c.1123G>A (p.Gly375Ser) | |
| 4 | g.101918151G>C | CA357956407 | BANK1 | c.1168G>C (p.Gly390Arg) c.769G>C (p.Gly257Arg) c.1078G>C (p.Gly360Arg) c.1123G>C (p.Gly375Arg) | |
| 4 | g.101918151G>T | CA357956408 | BANK1 | c.1168G>T (p.Gly390Cys) c.769G>T (p.Gly257Cys) c.1078G>T (p.Gly360Cys) c.1123G>T (p.Gly375Cys) | gnomAD v4 |
| 4 | g.101918152del | CA2671564687 | BANK1 | c.1169del (p.Gly390ValfsTer19) c.770del (p.Gly257ValfsTer19) c.1079del (p.Gly360ValfsTer19) c.1124del (p.Gly375ValfsTer19) | gnomAD v4 |
| 4 | g.101918152G>A | CA357956409 | BANK1 | c.1169G>A (p.Gly390Asp) c.770G>A (p.Gly257Asp) c.1079G>A (p.Gly360Asp) c.1124G>A (p.Gly375Asp) | gnomAD v4 |
| 4 | g.101918152G>C | CA357956410 | BANK1 | c.1169G>C (p.Gly390Ala) c.770G>C (p.Gly257Ala) c.1079G>C (p.Gly360Ala) c.1124G>C (p.Gly375Ala) | |
| 4 | g.101918152G= | CA1481138715 | BANK1 | c.1169G= (p.Gly390=) c.770G= (p.Gly257=) c.1079G= (p.Gly360=) c.1124G= (p.Gly375=) | |
| 4 | g.101918152G>T | CA3025033 | BANK1 | c.1169G>T (p.Gly390Val) c.770G>T (p.Gly257Val) c.1079G>T (p.Gly360Val) c.1124G>T (p.Gly375Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.101918153T>A | CA440606648 | BANK1 | c.1170T>A (p.Gly390=) c.771T>A (p.Gly257=) c.1080T>A (p.Gly360=) c.1125T>A (p.Gly375=) | |
| 4 | g.101918153T>C | CA440606647 | BANK1 | c.1170T>C (p.Gly390=) c.771T>C (p.Gly257=) c.1080T>C (p.Gly360=) c.1125T>C (p.Gly375=) | gnomAD v4 |
| 4 | g.101918153T>G | CA440606646 | BANK1 | c.1170T>G (p.Gly390=) c.771T>G (p.Gly257=) c.1080T>G (p.Gly360=) c.1125T>G (p.Gly375=) | |
| 4 | g.101918154C>A | CA357956413 | BANK1 | c.1171C>A (p.His391Asn) c.772C>A (p.His258Asn) c.1081C>A (p.His361Asn) c.1126C>A (p.His376Asn) | gnomAD v4 |
| 4 | g.101918154C>G | CA357956411 | BANK1 | c.1171C>G (p.His391Asp) c.772C>G (p.His258Asp) c.1081C>G (p.His361Asp) c.1126C>G (p.His376Asp) | |
| 4 | g.101918154C>T | CA357956412 | BANK1 | c.1171C>T (p.His391Tyr) c.772C>T (p.His258Tyr) c.1081C>T (p.His361Tyr) c.1126C>T (p.His376Tyr) | |
| 4 | g.101918155A>C | CA357956414 | BANK1 | c.1172A>C (p.His391Pro) c.773A>C (p.His258Pro) c.1082A>C (p.His361Pro) c.1127A>C (p.His376Pro) | gnomAD v4 |
| 4 | g.101918155A>G | CA357956415 | BANK1 | c.1172A>G (p.His391Arg) c.773A>G (p.His258Arg) c.1082A>G (p.His361Arg) c.1127A>G (p.His376Arg) | |
| 4 | g.101918155A>T | CA357956416 | BANK1 | c.1172A>T (p.His391Leu) c.773A>T (p.His258Leu) c.1082A>T (p.His361Leu) c.1127A>T (p.His376Leu) | gnomAD v4 |
| 4 | g.101918156C>A | CA357956417 | BANK1 | c.1173C>A (p.His391Gln) c.774C>A (p.His258Gln) c.1083C>A (p.His361Gln) c.1128C>A (p.His376Gln) | gnomAD v3 gnomAD v4 |
| 4 | g.101918156C>G | CA357956418 | BANK1 | c.1173C>G (p.His391Gln) c.774C>G (p.His258Gln) c.1083C>G (p.His361Gln) c.1128C>G (p.His376Gln) | |
| 4 | g.101918156C>T | CA440606650 | BANK1 | c.1173C>T (p.His391=) c.774C>T (p.His258=) c.1083C>T (p.His361=) c.1128C>T (p.His376=) | COSMIC |
| 4 | g.101918157A= | CA1481138716 | BANK1 | c.1174A= (p.Lys392=) c.775A= (p.Lys259=) c.1084A= (p.Lys362=) c.1129A= (p.Lys377=) | |
| 4 | g.101918157A>C | CA357956419 | BANK1 | c.1174A>C (p.Lys392Gln) c.775A>C (p.Lys259Gln) c.1084A>C (p.Lys362Gln) c.1129A>C (p.Lys377Gln) | |
| 4 | g.101918157A>G | CA357956420 | BANK1 | c.1174A>G (p.Lys392Glu) c.775A>G (p.Lys259Glu) c.1084A>G (p.Lys362Glu) c.1129A>G (p.Lys377Glu) | dbSNP gnomAD v4 |
| 4 | g.101918157A>T | CA357956421 | BANK1 | c.1174A>T (p.Lys392Ter) c.775A>T (p.Lys259Ter) c.1084A>T (p.Lys362Ter) c.1129A>T (p.Lys377Ter) | |
| 4 | g.101918158A>C | CA357956422 | BANK1 | c.1175A>C (p.Lys392Thr) c.776A>C (p.Lys259Thr) c.1085A>C (p.Lys362Thr) c.1130A>C (p.Lys377Thr) | |
| 4 | g.101918158A>G | CA357956423 | BANK1 | c.1175A>G (p.Lys392Arg) c.776A>G (p.Lys259Arg) c.1085A>G (p.Lys362Arg) c.1130A>G (p.Lys377Arg) | gnomAD v4 |
| 4 | g.101918158A>T | CA357956424 | BANK1 | c.1175A>T (p.Lys392Ile) c.776A>T (p.Lys259Ile) c.1085A>T (p.Lys362Ile) c.1130A>T (p.Lys377Ile) |