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.101918139G>A | CA357956382 | BANK1 | c.1156G>A (p.Ala386Thr) c.757G>A (p.Ala253Thr) c.1066G>A (p.Ala356Thr) c.1111G>A (p.Ala371Thr) | |
| 4 | g.101918139G>C | CA357956381 | BANK1 | c.1156G>C (p.Ala386Pro) c.757G>C (p.Ala253Pro) c.1066G>C (p.Ala356Pro) c.1111G>C (p.Ala371Pro) | |
| 4 | g.101918139G= | CA1481138709 | BANK1 | c.1156G= (p.Ala386=) c.757G= (p.Ala253=) c.1066G= (p.Ala356=) c.1111G= (p.Ala371=) | |
| 4 | g.101918139G>T | CA3025030 | BANK1 | c.1156G>T (p.Ala386Ser) c.757G>T (p.Ala253Ser) c.1066G>T (p.Ala356Ser) c.1111G>T (p.Ala371Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918140C>A | CA357956383 | BANK1 | c.1157C>A (p.Ala386Asp) c.758C>A (p.Ala253Asp) c.1067C>A (p.Ala356Asp) c.1112C>A (p.Ala371Asp) | gnomAD v4 |
| 4 | g.101918140C>G | CA357956384 | BANK1 | c.1157C>G (p.Ala386Gly) c.758C>G (p.Ala253Gly) c.1067C>G (p.Ala356Gly) c.1112C>G (p.Ala371Gly) | |
| 4 | g.101918140C>T | CA357956385 | BANK1 | c.1157C>T (p.Ala386Val) c.758C>T (p.Ala253Val) c.1067C>T (p.Ala356Val) c.1112C>T (p.Ala371Val) | gnomAD v4 |
| 4 | g.101918141T>A | CA440606639 | BANK1 | c.1158T>A (p.Ala386=) c.759T>A (p.Ala253=) c.1068T>A (p.Ala356=) c.1113T>A (p.Ala371=) | |
| 4 | g.101918141T>C | CA440606640 | BANK1 | c.1158T>C (p.Ala386=) c.759T>C (p.Ala253=) c.1068T>C (p.Ala356=) c.1113T>C (p.Ala371=) | gnomAD v4 |
| 4 | g.101918141T>G | CA440606641 | BANK1 | c.1158T>G (p.Ala386=) c.759T>G (p.Ala253=) c.1068T>G (p.Ala356=) c.1113T>G (p.Ala371=) | gnomAD v4 |
| 4 | g.101918142G>A | CA3025031 | BANK1 | c.1159G>A (p.Glu387Lys) c.760G>A (p.Glu254Lys) c.1069G>A (p.Glu357Lys) c.1114G>A (p.Glu372Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.101918142G>C | CA357956386 | BANK1 | c.1159G>C (p.Glu387Gln) c.760G>C (p.Glu254Gln) c.1069G>C (p.Glu357Gln) c.1114G>C (p.Glu372Gln) | |
| 4 | g.101918142G= | CA1481138710 | BANK1 | c.1159G= (p.Glu387=) c.760G= (p.Glu254=) c.1069G= (p.Glu357=) c.1114G= (p.Glu372=) | |
| 4 | g.101918142G>T | CA357956387 | BANK1 | c.1159G>T (p.Glu387Ter) c.760G>T (p.Glu254Ter) c.1069G>T (p.Glu357Ter) c.1114G>T (p.Glu372Ter) | gnomAD v4 |
| 4 | g.101918143A>C | CA357956388 | BANK1 | c.1160A>C (p.Glu387Ala) c.761A>C (p.Glu254Ala) c.1070A>C (p.Glu357Ala) c.1115A>C (p.Glu372Ala) | |
| 4 | g.101918143A>G | CA357956390 | BANK1 | c.1160A>G (p.Glu387Gly) c.761A>G (p.Glu254Gly) c.1070A>G (p.Glu357Gly) c.1115A>G (p.Glu372Gly) | |
| 4 | g.101918143A>T | CA357956389 | BANK1 | c.1160A>T (p.Glu387Val) c.761A>T (p.Glu254Val) c.1070A>T (p.Glu357Val) c.1115A>T (p.Glu372Val) | |
| 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.101918144A>C | CA357956391 | BANK1 | c.1161A>C (p.Glu387Asp) c.762A>C (p.Glu254Asp) c.1071A>C (p.Glu357Asp) c.1116A>C (p.Glu372Asp) | |
| 4 | g.101918144A>G | CA440606642 | BANK1 | c.1161A>G (p.Glu387=) c.762A>G (p.Glu254=) c.1071A>G (p.Glu357=) c.1116A>G (p.Glu372=) | gnomAD v4 |
| 4 | g.101918144A>T | CA357956392 | BANK1 | c.1161A>T (p.Glu387Asp) c.762A>T (p.Glu254Asp) c.1071A>T (p.Glu357Asp) c.1116A>T (p.Glu372Asp) | |
| 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=) |