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.16006547_16006565delinsAAGACGCCTCCGGTGTTGG | CA1440916646 | PROM1 | c.1427_1445delinsCCAACACCGGAGGCGTCTT (p.Ser476=) c.*1110_*1128delinsCCAACACCGGAGGCGTCTT (n.*1110_*1128delinsCCAACACCGGAGGCGTCTT) c.1400_1418delinsCCAACACCGGAGGCGTCTT (p.Ser467=) c.1485_1503delinsCCAACACCGGAGGCGTCTT c.1193_1211delinsCCAACACCGGAGGCGTCTT (p.Ser398=) c.1220_1238delinsCCAACACCGGAGGCGTCTT (p.Ser407=) c.1154_1172delinsCCAACACCGGAGGCGTCTT (p.Ser385=) | |
| 4 | g.16006552_16006569del | CA1440916649 | PROM1 | c.1427_1444del (p.Ser476_Val481del) c.*1110_*1127del (n.*1110_*1127del) c.1400_1417del (p.Ser467_Val472del) c.1485_1502del c.1193_1210del (p.Ser398_Val403del) c.1220_1237del (p.Ser407_Val412del) c.1154_1171del (p.Ser385_Val390del) | dbSNP |
| 4 | g.16006556C>A | CA356435099 | PROM1 | c.1436G>T (p.Gly479Val) c.*1119G>T (n.*1119G>T) c.1409G>T (p.Gly470Val) c.1494G>T c.1202G>T (p.Gly401Val) c.1229G>T (p.Gly410Val) c.1163G>T (p.Gly388Val) | gnomAD v4 |
| 4 | g.16006556C>G | CA356435101 | PROM1 | c.1436G>C (p.Gly479Ala) c.*1119G>C (n.*1119G>C) c.1409G>C (p.Gly470Ala) c.1494G>C c.1202G>C (p.Gly401Ala) c.1229G>C (p.Gly410Ala) c.1163G>C (p.Gly388Ala) | |
| 4 | g.16006556C>T | CA356435103 | PROM1 | c.1436G>A (p.Gly479Glu) c.*1119G>A (n.*1119G>A) c.1409G>A (p.Gly470Glu) c.1494G>A c.1202G>A (p.Gly401Glu) c.1229G>A (p.Gly410Glu) c.1163G>A (p.Gly388Glu) | |
| 4 | g.16006557C>A | CA356435105 | PROM1 | c.1435G>T (p.Gly479Ter) c.*1118G>T (n.*1118G>T) c.1408G>T (p.Gly470Ter) c.1493G>T c.1201G>T (p.Gly401Ter) c.1228G>T (p.Gly410Ter) c.1162G>T (p.Gly388Ter) | gnomAD v4 |
| 4 | g.16006557C= | CA1440916653 | PROM1 | c.1435G= (p.Gly479=) c.*1118G= (n.*1118G=) c.1408G= (p.Gly470=) c.1493G= c.1201G= (p.Gly401=) c.1228G= (p.Gly410=) c.1162G= (p.Gly388=) | |
| 4 | g.16006557C>G | CA356435107 | PROM1 | c.1435G>C (p.Gly479Arg) c.*1118G>C (n.*1118G>C) c.1408G>C (p.Gly470Arg) c.1493G>C c.1201G>C (p.Gly401Arg) c.1228G>C (p.Gly410Arg) c.1162G>C (p.Gly388Arg) | |
| 4 | g.16006557C>T | CA2866772 | PROM1 | c.1435G>A (p.Gly479Arg) c.*1118G>A (n.*1118G>A) c.1408G>A (p.Gly470Arg) c.1493G>A c.1201G>A (p.Gly401Arg) c.1228G>A (p.Gly410Arg) c.1162G>A (p.Gly388Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006558G>A | CA2866773 | PROM1 | c.1434C>T (p.Thr478=) c.*1117C>T (n.*1117C>T) c.1407C>T (p.Thr469=) c.1492C>T c.1200C>T (p.Thr400=) c.1227C>T (p.Thr409=) c.1161C>T (p.Thr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006558G>C | CA438386794 | PROM1 | c.1434C>G (p.Thr478=) c.*1117C>G (n.*1117C>G) c.1407C>G (p.Thr469=) c.1492C>G c.1200C>G (p.Thr400=) c.1227C>G (p.Thr409=) c.1161C>G (p.Thr387=) | |
| 4 | g.16006558G= | CA1440916654 | PROM1 | c.1434C= (p.Thr478=) c.*1117C= (n.*1117C=) c.1407C= (p.Thr469=) c.1492C= c.1200C= (p.Thr400=) c.1227C= (p.Thr409=) c.1161C= (p.Thr387=) | |
| 4 | g.16006558G>T | CA438386795 | PROM1 | c.1434C>A (p.Thr478=) c.*1117C>A (n.*1117C>A) c.1407C>A (p.Thr469=) c.1492C>A c.1200C>A (p.Thr400=) c.1227C>A (p.Thr409=) c.1161C>A (p.Thr387=) | gnomAD v4 |
| 4 | g.16006559dup | CA2670099964 | PROM1 | c.1434dup (p.Gly479ArgfsTer?) c.*1117dup (n.*1117dup) c.1407dup (p.Gly470ArgfsTer?) c.1492dup c.1200dup (p.Gly401ArgfsTer?) c.1227dup (p.Gly410ArgfsTer?) c.1161dup (p.Gly388ArgfsTer?) | gnomAD v4 |
| 4 | g.16006559G>A | CA356435111 | PROM1 | c.1433C>T (p.Thr478Ile) c.*1116C>T (n.*1116C>T) c.1406C>T (p.Thr469Ile) c.1491C>T c.1199C>T (p.Thr400Ile) c.1226C>T (p.Thr409Ile) c.1160C>T (p.Thr387Ile) | gnomAD v4 |
| 4 | g.16006559G>C | CA356435114 | PROM1 | c.1433C>G (p.Thr478Ser) c.*1116C>G (n.*1116C>G) c.1406C>G (p.Thr469Ser) c.1491C>G c.1199C>G (p.Thr400Ser) c.1226C>G (p.Thr409Ser) c.1160C>G (p.Thr387Ser) | |
| 4 | g.16006559G>T | CA356435116 | PROM1 | c.1433C>A (p.Thr478Asn) c.*1116C>A (n.*1116C>A) c.1406C>A (p.Thr469Asn) c.1491C>A c.1199C>A (p.Thr400Asn) c.1226C>A (p.Thr409Asn) c.1160C>A (p.Thr387Asn) | gnomAD v4 |
| 4 | g.16006560T>A | CA356435123 | PROM1 | c.1432A>T (p.Thr478Ser) c.*1115A>T (n.*1115A>T) c.1405A>T (p.Thr469Ser) c.1490A>T c.1198A>T (p.Thr400Ser) c.1225A>T (p.Thr409Ser) c.1159A>T (p.Thr387Ser) | |
| 4 | g.16006560T>C | CA356435121 | PROM1 | c.1432A>G (p.Thr478Ala) c.*1115A>G (n.*1115A>G) c.1405A>G (p.Thr469Ala) c.1490A>G c.1198A>G (p.Thr400Ala) c.1225A>G (p.Thr409Ala) c.1159A>G (p.Thr387Ala) | |
| 4 | g.16006560T>G | CA356435120 | PROM1 | c.1432A>C (p.Thr478Pro) c.*1115A>C (n.*1115A>C) c.1405A>C (p.Thr469Pro) c.1490A>C c.1198A>C (p.Thr400Pro) c.1225A>C (p.Thr409Pro) c.1159A>C (p.Thr387Pro) | gnomAD v4 |
| 4 | g.16006561G>A | CA438386796 | PROM1 | c.1431C>T (p.Asn477=) c.*1114C>T (n.*1114C>T) c.1404C>T (p.Asn468=) c.1489C>T c.1197C>T (p.Asn399=) c.1224C>T (p.Asn408=) c.1158C>T (p.Asn386=) | gnomAD v4 |
| 4 | g.16006561G>C | CA356435125 | PROM1 | c.1431C>G (p.Asn477Lys) c.*1114C>G (n.*1114C>G) c.1404C>G (p.Asn468Lys) c.1489C>G c.1197C>G (p.Asn399Lys) c.1224C>G (p.Asn408Lys) c.1158C>G (p.Asn386Lys) | |
| 4 | g.16006561G>T | CA356435127 | PROM1 | c.1431C>A (p.Asn477Lys) c.*1114C>A (n.*1114C>A) c.1404C>A (p.Asn468Lys) c.1489C>A c.1197C>A (p.Asn399Lys) c.1224C>A (p.Asn408Lys) c.1158C>A (p.Asn386Lys) | gnomAD v4 |
| 4 | g.16006562T>A | CA356435129 | PROM1 | c.1430A>T (p.Asn477Ile) c.*1113A>T (n.*1113A>T) c.1403A>T (p.Asn468Ile) c.1488A>T c.1196A>T (p.Asn399Ile) c.1223A>T (p.Asn408Ile) c.1157A>T (p.Asn386Ile) | |
| 4 | g.16006562T>C | CA356435131 | PROM1 | c.1430A>G (p.Asn477Ser) c.*1113A>G (n.*1113A>G) c.1403A>G (p.Asn468Ser) c.1488A>G c.1196A>G (p.Asn399Ser) c.1223A>G (p.Asn408Ser) c.1157A>G (p.Asn386Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006562T>G | CA356435133 | PROM1 | c.1430A>C (p.Asn477Thr) c.*1113A>C (n.*1113A>C) c.1403A>C (p.Asn468Thr) c.1488A>C c.1196A>C (p.Asn399Thr) c.1223A>C (p.Asn408Thr) c.1157A>C (p.Asn386Thr) | |
| 4 | g.16006562T= | CA1440916655 | PROM1 | c.1430A= (p.Asn477=) c.*1113A= (n.*1113A=) c.1403A= (p.Asn468=) c.1488A= c.1196A= (p.Asn399=) c.1223A= (p.Asn408=) c.1157A= (p.Asn386=) | |
| 4 | g.16006563T>A | CA356435135 | PROM1 | c.1429A>T (p.Asn477Tyr) c.*1112A>T (n.*1112A>T) c.1402A>T (p.Asn468Tyr) c.1487A>T c.1195A>T (p.Asn399Tyr) c.1222A>T (p.Asn408Tyr) c.1156A>T (p.Asn386Tyr) | |
| 4 | g.16006563T>C | CA356435137 | PROM1 | c.1429A>G (p.Asn477Asp) c.*1112A>G (n.*1112A>G) c.1402A>G (p.Asn468Asp) c.1487A>G c.1195A>G (p.Asn399Asp) c.1222A>G (p.Asn408Asp) c.1156A>G (p.Asn386Asp) | |
| 4 | g.16006563T>G | CA356435139 | PROM1 | c.1429A>C (p.Asn477His) c.*1112A>C (n.*1112A>C) c.1402A>C (p.Asn468His) c.1487A>C c.1195A>C (p.Asn399His) c.1222A>C (p.Asn408His) c.1156A>C (p.Asn386His) | |
| 4 | g.16006564G>A | CA438386800 | PROM1 | c.1428C>T (p.Ser476=) c.*1111C>T (n.*1111C>T) c.1401C>T (p.Ser467=) c.1486C>T c.1194C>T (p.Ser398=) c.1221C>T (p.Ser407=) c.1155C>T (p.Ser385=) | |
| 4 | g.16006564G>C | CA438386798 | PROM1 | c.1428C>G (p.Ser476=) c.*1111C>G (n.*1111C>G) c.1401C>G (p.Ser467=) c.1486C>G c.1194C>G (p.Ser398=) c.1221C>G (p.Ser407=) c.1155C>G (p.Ser385=) | |
| 4 | g.16006564G>T | CA438386799 | PROM1 | c.1428C>A (p.Ser476=) c.*1111C>A (n.*1111C>A) c.1401C>A (p.Ser467=) c.1486C>A c.1194C>A (p.Ser398=) c.1221C>A (p.Ser407=) c.1155C>A (p.Ser385=) | |
| 4 | g.16006565G>A | CA356435142 | PROM1 | c.1427C>T (p.Ser476Phe) c.*1110C>T (n.*1110C>T) c.1400C>T (p.Ser467Phe) c.1485C>T c.1193C>T (p.Ser398Phe) c.1220C>T (p.Ser407Phe) c.1154C>T (p.Ser385Phe) | dbSNP gnomAD v2 |
| 4 | g.16006565G>C | CA356435143 | PROM1 | c.1427C>G (p.Ser476Cys) c.*1110C>G (n.*1110C>G) c.1400C>G (p.Ser467Cys) c.1485C>G c.1193C>G (p.Ser398Cys) c.1220C>G (p.Ser407Cys) c.1154C>G (p.Ser385Cys) | |
| 4 | g.16006565G= | CA1440916656 | PROM1 | c.1427C= (p.Ser476=) c.*1110C= (n.*1110C=) c.1400C= (p.Ser467=) c.1485C= c.1193C= (p.Ser398=) c.1220C= (p.Ser407=) c.1154C= (p.Ser385=) | |
| 4 | g.16006565G>T | CA356435145 | PROM1 | c.1427C>A (p.Ser476Tyr) c.*1110C>A (n.*1110C>A) c.1400C>A (p.Ser467Tyr) c.1485C>A c.1193C>A (p.Ser398Tyr) c.1220C>A (p.Ser407Tyr) c.1154C>A (p.Ser385Tyr) | gnomAD v4 |
| 4 | g.16006566A>C | CA356435149 | PROM1 | c.1426T>G (p.Ser476Ala) c.*1109T>G (n.*1109T>G) c.1399T>G (p.Ser467Ala) c.1484T>G c.1192T>G (p.Ser398Ala) c.1219T>G (p.Ser407Ala) c.1153T>G (p.Ser385Ala) | |
| 4 | g.16006566A>G | CA356435150 | PROM1 | c.1426T>C (p.Ser476Pro) c.*1109T>C (n.*1109T>C) c.1399T>C (p.Ser467Pro) c.1484T>C c.1192T>C (p.Ser398Pro) c.1219T>C (p.Ser407Pro) c.1153T>C (p.Ser385Pro) | |
| 4 | g.16006566A>T | CA356435147 | PROM1 | c.1426T>A (p.Ser476Thr) c.*1109T>A (n.*1109T>A) c.1399T>A (p.Ser467Thr) c.1484T>A c.1192T>A (p.Ser398Thr) c.1219T>A (p.Ser407Thr) c.1153T>A (p.Ser385Thr) | |
| 4 | g.16006567G>A | CA438386803 | PROM1 | c.1425C>T (p.Val475=) c.*1108C>T (n.*1108C>T) c.1398C>T (p.Val466=) c.1483C>T c.1191C>T (p.Val397=) c.1218C>T (p.Val406=) c.1152C>T (p.Val384=) | |
| 4 | g.16006567G>C | CA438386804 | PROM1 | c.1425C>G (p.Val475=) c.*1108C>G (n.*1108C>G) c.1398C>G (p.Val466=) c.1483C>G c.1191C>G (p.Val397=) c.1218C>G (p.Val406=) c.1152C>G (p.Val384=) | |
| 4 | g.16006567G>T | CA438386805 | PROM1 | c.1425C>A (p.Val475=) c.*1108C>A (n.*1108C>A) c.1398C>A (p.Val466=) c.1483C>A c.1191C>A (p.Val397=) c.1218C>A (p.Val406=) c.1152C>A (p.Val384=) | gnomAD v4 |
| 4 | g.16006567_16006569delinsGAC | CA1440916657 | PROM1 | c.1423_1425delinsGTC (p.Val475=) c.*1106_*1108delinsGTC (n.*1106_*1108delinsGTC) c.1396_1398delinsGTC (p.Val466=) c.1481_1483delinsGTC c.1189_1191delinsGTC (p.Val397=) c.1216_1218delinsGTC (p.Val406=) c.1150_1152delinsGTC (p.Val384=) | |
| 4 | g.16006568A>C | CA356435153 | PROM1 | c.1424T>G (p.Val475Gly) c.*1107T>G (n.*1107T>G) c.1397T>G (p.Val466Gly) c.1482T>G c.1190T>G (p.Val397Gly) c.1217T>G (p.Val406Gly) c.1151T>G (p.Val384Gly) | |
| 4 | g.16006568A>G | CA356435154 | PROM1 | c.1424T>C (p.Val475Ala) c.*1107T>C (n.*1107T>C) c.1397T>C (p.Val466Ala) c.1482T>C c.1190T>C (p.Val397Ala) c.1217T>C (p.Val406Ala) c.1151T>C (p.Val384Ala) | |
| 4 | g.16006568A>T | CA356435156 | PROM1 | c.1424T>A (p.Val475Asp) c.*1107T>A (n.*1107T>A) c.1397T>A (p.Val466Asp) c.1482T>A c.1190T>A (p.Val397Asp) c.1217T>A (p.Val406Asp) c.1151T>A (p.Val384Asp) | ClinVar dbSNP |
| 4 | g.16006571_16006572del | CA789850355 | PROM1 | c.1423_1424del (p.Val475LeufsTer?) c.*1106_*1107del (n.*1106_*1107del) c.1396_1397del (p.Val466LeufsTer?) c.1481_1482del c.1189_1190del (p.Val397LeufsTer?) c.1216_1217del (p.Val406LeufsTer?) c.1150_1151del (p.Val384LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16006569C>A | CA356435158 | PROM1 | c.1423G>T (p.Val475Phe) c.*1106G>T (n.*1106G>T) c.1396G>T (p.Val466Phe) c.1481G>T c.1189G>T (p.Val397Phe) c.1216G>T (p.Val406Phe) c.1150G>T (p.Val384Phe) | gnomAD v4 COSMIC COSMIC |
| 4 | g.16006569C>G | CA356435160 | PROM1 | c.1423G>C (p.Val475Leu) c.*1106G>C (n.*1106G>C) c.1396G>C (p.Val466Leu) c.1481G>C c.1189G>C (p.Val397Leu) c.1216G>C (p.Val406Leu) c.1150G>C (p.Val384Leu) | gnomAD v4 |