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 |
|---|---|---|---|---|---|
| 16 | g.89285152_89285153delinsCT | CA2241603240 | ANKRD11 | c.1389_1390delinsAG (p.Lys463=) c.*1192_*1193delinsAG (n.*1192_*1193delinsAG) c.1014_1015delinsAG (p.Lys338=) c.744+3375_744+3376delinsAG (n.744+3375_744+3376delinsAG) n.3161_3162delinsAG n.1381_1382delinsAG c.151+3375_151+3376delinsAG c.1287_1288delinsAG (p.Lys429=) c.1092_1093delinsAG (p.Lys364=) c.1260_1261delinsAG (p.Lys420=) | |
| 16 | g.89285153T>A | CA397165055 | ANKRD11 | c.1389A>T (p.Lys463Asn) c.*1192A>T (n.*1192A>T) c.1014A>T (p.Lys338Asn) c.744+3375A>T (n.744+3375A>T) n.3161A>T n.1381A>T c.151+3375A>T c.1287A>T (p.Lys429Asn) c.1092A>T (p.Lys364Asn) c.1260A>T (p.Lys420Asn) | |
| 16 | g.89285153T>C | CA497375402 | ANKRD11 | c.1389A>G (p.Lys463=) c.*1192A>G (n.*1192A>G) c.1014A>G (p.Lys338=) c.744+3375A>G (n.744+3375A>G) n.3161A>G n.1381A>G c.151+3375A>G c.1287A>G (p.Lys429=) c.1092A>G (p.Lys364=) c.1260A>G (p.Lys420=) | |
| 16 | g.89285153T>G | CA397165056 | ANKRD11 | c.1389A>C (p.Lys463Asn) c.*1192A>C (n.*1192A>C) c.1014A>C (p.Lys338Asn) c.744+3375A>C (n.744+3375A>C) n.3161A>C n.1381A>C c.151+3375A>C c.1287A>C (p.Lys429Asn) c.1092A>C (p.Lys364Asn) c.1260A>C (p.Lys420Asn) | |
| 16 | g.89285156dup | CA2695224000 | ANKRD11 | c.1389dup (p.Gly464ArgfsTer29) c.*1192dup (n.*1192dup) c.1014dup (p.Gly339ArgfsTer29) c.744+3375dup (n.744+3375dup) n.3161dup n.1381dup c.151+3375dup c.1287dup (p.Gly430ArgfsTer29) c.1092dup (p.Gly365ArgfsTer29) c.1260dup (p.Gly421ArgfsTer29) | |
| 16 | g.89285156del | CA658798668 | ANKRD11 | c.1389del (p.Gly464AlafsTer?) c.*1192del (n.*1192del) c.1014del (p.Gly339AlafsTer?) c.744+3375del (n.744+3375del) n.3161del n.1381del c.151+3375del c.1287del (p.Gly430AlafsTer?) c.1092del (p.Gly365AlafsTer?) c.1260del (p.Gly421AlafsTer?) | ClinVar dbSNP |
| 16 | g.89285155_89285156del | CA2580092268 | ANKRD11 | c.1388_1389del (p.Lys463ArgfsTer29) c.*1191_*1192del (n.*1191_*1192del) c.1013_1014del (p.Lys338ArgfsTer29) c.744+3374_744+3375del (n.744+3374_744+3375del) n.3160_3161del n.1380_1381del c.151+3374_151+3375del c.1286_1287del (p.Lys429ArgfsTer29) c.1091_1092del (p.Lys364ArgfsTer29) c.1259_1260del (p.Lys420ArgfsTer29) | ClinVar dbSNP |
| 16 | g.89285153_89285157delinsTTTTG | CA2241603244 | ANKRD11 | c.1385_1389delinsCAAAA (p.Thr462=) c.*1188_*1192delinsCAAAA (n.*1188_*1192delinsCAAAA) c.1010_1014delinsCAAAA (p.Thr337=) c.744+3371_744+3375delinsCAAAA (n.744+3371_744+3375delinsCAAAA) n.3157_3161delinsCAAAA n.1377_1381delinsCAAAA c.151+3371_151+3375delinsCAAAA c.1283_1287delinsCAAAA (p.Thr428=) c.1088_1092delinsCAAAA (p.Thr363=) c.1256_1260delinsCAAAA (p.Thr419=) | |
| 16 | g.89285154T>A | CA397165057 | ANKRD11 | c.1388A>T (p.Lys463Ile) c.*1191A>T (n.*1191A>T) c.1013A>T (p.Lys338Ile) c.744+3374A>T (n.744+3374A>T) n.3160A>T n.1380A>T c.151+3374A>T c.1286A>T (p.Lys429Ile) c.1091A>T (p.Lys364Ile) c.1259A>T (p.Lys420Ile) | |
| 16 | g.89285154T>C | CA397165058 | ANKRD11 | c.1388A>G (p.Lys463Arg) c.*1191A>G (n.*1191A>G) c.1013A>G (p.Lys338Arg) c.744+3374A>G (n.744+3374A>G) n.3160A>G n.1380A>G c.151+3374A>G c.1286A>G (p.Lys429Arg) c.1091A>G (p.Lys364Arg) c.1259A>G (p.Lys420Arg) | |
| 16 | g.89285154T>G | CA397165059 | ANKRD11 | c.1388A>C (p.Lys463Thr) c.*1191A>C (n.*1191A>C) c.1013A>C (p.Lys338Thr) c.744+3374A>C (n.744+3374A>C) n.3160A>C n.1380A>C c.151+3374A>C c.1286A>C (p.Lys429Thr) c.1091A>C (p.Lys364Thr) c.1259A>C (p.Lys420Thr) | |
| 16 | g.89285157_89285160del | CA1139664898 | ANKRD11 | c.1385_1388del (p.Thr462LysfsTer?) c.*1188_*1191del (n.*1188_*1191del) c.1010_1013del (p.Thr337LysfsTer?) c.744+3371_744+3374del (n.744+3371_744+3374del) n.3157_3160del n.1377_1380del c.151+3371_151+3374del c.1283_1286del (p.Thr428LysfsTer?) c.1088_1091del (p.Thr363LysfsTer?) c.1256_1259del (p.Thr419LysfsTer?) | ClinVar dbSNP |
| 16 | g.89285155T>A | CA397165061 | ANKRD11 | c.1387A>T (p.Lys463Ter) c.*1190A>T (n.*1190A>T) c.1012A>T (p.Lys338Ter) c.744+3373A>T (n.744+3373A>T) n.3159A>T n.1379A>T c.151+3373A>T c.1285A>T (p.Lys429Ter) c.1090A>T (p.Lys364Ter) c.1258A>T (p.Lys420Ter) | |
| 16 | g.89285155T>C | CA397165062 | ANKRD11 | c.1387A>G (p.Lys463Glu) c.*1190A>G (n.*1190A>G) c.1012A>G (p.Lys338Glu) c.744+3373A>G (n.744+3373A>G) n.3159A>G n.1379A>G c.151+3373A>G c.1285A>G (p.Lys429Glu) c.1090A>G (p.Lys364Glu) c.1258A>G (p.Lys420Glu) | gnomAD v4 |
| 16 | g.89285155T>G | CA397165060 | ANKRD11 | c.1387A>C (p.Lys463Gln) c.*1190A>C (n.*1190A>C) c.1012A>C (p.Lys338Gln) c.744+3373A>C (n.744+3373A>C) n.3159A>C n.1379A>C c.151+3373A>C c.1285A>C (p.Lys429Gln) c.1090A>C (p.Lys364Gln) c.1258A>C (p.Lys420Gln) | |
| 16 | g.89285155_89285161delinsTTGTTTC | CA2241603247 | ANKRD11 | c.1381_1387delinsGAAACAA (p.Glu461=) c.*1184_*1190delinsGAAACAA (n.*1184_*1190delinsGAAACAA) c.1006_1012delinsGAAACAA (p.Glu336=) c.744+3367_744+3373delinsGAAACAA (n.744+3367_744+3373delinsGAAACAA) n.3153_3159delinsGAAACAA n.1373_1379delinsGAAACAA c.151+3367_151+3373delinsGAAACAA c.1279_1285delinsGAAACAA (p.Glu427=) c.1084_1090delinsGAAACAA (p.Glu362=) c.1252_1258delinsGAAACAA (p.Glu418=) | |
| 16 | g.89285156T>A | CA497375410 | ANKRD11 | c.1386A>T (p.Thr462=) c.*1189A>T (n.*1189A>T) c.1011A>T (p.Thr337=) c.744+3372A>T (n.744+3372A>T) n.3158A>T n.1378A>T c.151+3372A>T c.1284A>T (p.Thr428=) c.1089A>T (p.Thr363=) c.1257A>T (p.Thr419=) | |
| 16 | g.89285156T>C | CA497375408 | ANKRD11 | c.1386A>G (p.Thr462=) c.*1189A>G (n.*1189A>G) c.1011A>G (p.Thr337=) c.744+3372A>G (n.744+3372A>G) n.3158A>G n.1378A>G c.151+3372A>G c.1284A>G (p.Thr428=) c.1089A>G (p.Thr363=) c.1257A>G (p.Thr419=) | dbSNP gnomAD v4 |
| 16 | g.89285156T>G | CA497375407 | ANKRD11 | c.1386A>C (p.Thr462=) c.*1189A>C (n.*1189A>C) c.1011A>C (p.Thr337=) c.744+3372A>C (n.744+3372A>C) n.3158A>C n.1378A>C c.151+3372A>C c.1284A>C (p.Thr428=) c.1089A>C (p.Thr363=) c.1257A>C (p.Thr419=) | |
| 16 | g.89285156T= | CA2241603249 | ANKRD11 | c.1386A= (p.Thr462=) c.*1189A= (n.*1189A=) c.1011A= (p.Thr337=) c.744+3372A= (n.744+3372A=) n.3158A= n.1378A= c.151+3372A= c.1284A= (p.Thr428=) c.1089A= (p.Thr363=) c.1257A= (p.Thr419=) | |
| 16 | g.89285157_89285162del | CA8242791 | ANKRD11 | c.1381_1386del (p.Glu461_Thr462del) c.*1184_*1189del (n.*1184_*1189del) c.1006_1011del (p.Glu336_Thr337del) c.744+3367_744+3372del (n.744+3367_744+3372del) n.3153_3158del n.1373_1378del c.151+3367_151+3372del c.1279_1284del (p.Glu427_Thr428del) c.1084_1089del (p.Glu362_Thr363del) c.1252_1257del (p.Glu418_Thr419del) | dbSNP ExAC gnomAD v2 |
| 16 | g.89285157G>A | CA397165063 | ANKRD11 | c.1385C>T (p.Thr462Ile) c.*1188C>T (n.*1188C>T) c.1010C>T (p.Thr337Ile) c.744+3371C>T (n.744+3371C>T) n.3157C>T n.1377C>T c.151+3371C>T c.1283C>T (p.Thr428Ile) c.1088C>T (p.Thr363Ile) c.1256C>T (p.Thr419Ile) | dbSNP |
| 16 | g.89285157G>C | CA8242792 | ANKRD11 | c.1385C>G (p.Thr462Arg) c.*1188C>G (n.*1188C>G) c.1010C>G (p.Thr337Arg) c.744+3371C>G (n.744+3371C>G) n.3157C>G n.1377C>G c.151+3371C>G c.1283C>G (p.Thr428Arg) c.1088C>G (p.Thr363Arg) c.1256C>G (p.Thr419Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89285157G= | CA2241603251 | ANKRD11 | c.1385C= (p.Thr462=) c.*1188C= (n.*1188C=) c.1010C= (p.Thr337=) c.744+3371C= (n.744+3371C=) n.3157C= n.1377C= c.151+3371C= c.1283C= (p.Thr428=) c.1088C= (p.Thr363=) c.1256C= (p.Thr419=) | |
| 16 | g.89285157G>T | CA397165064 | ANKRD11 | c.1385C>A (p.Thr462Lys) c.*1188C>A (n.*1188C>A) c.1010C>A (p.Thr337Lys) c.744+3371C>A (n.744+3371C>A) n.3157C>A n.1377C>A c.151+3371C>A c.1283C>A (p.Thr428Lys) c.1088C>A (p.Thr363Lys) c.1256C>A (p.Thr419Lys) | |
| 16 | g.89285157_89285161delinsGTTTC | CA2241603252 | ANKRD11 | c.1381_1385delinsGAAAC (p.Glu461=) c.*1184_*1188delinsGAAAC (n.*1184_*1188delinsGAAAC) c.1006_1010delinsGAAAC (p.Glu336=) c.744+3367_744+3371delinsGAAAC (n.744+3367_744+3371delinsGAAAC) n.3153_3157delinsGAAAC n.1373_1377delinsGAAAC c.151+3367_151+3371delinsGAAAC c.1279_1283delinsGAAAC (p.Glu427=) c.1084_1088delinsGAAAC (p.Glu362=) c.1252_1256delinsGAAAC (p.Glu418=) | |
| 16 | g.89285158T>A | CA397165065 | ANKRD11 | c.1384A>T (p.Thr462Ser) c.*1187A>T (n.*1187A>T) c.1009A>T (p.Thr337Ser) c.744+3370A>T (n.744+3370A>T) n.3156A>T n.1376A>T c.151+3370A>T c.1282A>T (p.Thr428Ser) c.1087A>T (p.Thr363Ser) c.1255A>T (p.Thr419Ser) | |
| 16 | g.89285158T>C | CA397165067 | ANKRD11 | c.1384A>G (p.Thr462Ala) c.*1187A>G (n.*1187A>G) c.1009A>G (p.Thr337Ala) c.744+3370A>G (n.744+3370A>G) n.3156A>G n.1376A>G c.151+3370A>G c.1282A>G (p.Thr428Ala) c.1087A>G (p.Thr363Ala) c.1255A>G (p.Thr419Ala) | |
| 16 | g.89285158T>G | CA397165066 | ANKRD11 | c.1384A>C (p.Thr462Pro) c.*1187A>C (n.*1187A>C) c.1009A>C (p.Thr337Pro) c.744+3370A>C (n.744+3370A>C) n.3156A>C n.1376A>C c.151+3370A>C c.1282A>C (p.Thr428Pro) c.1087A>C (p.Thr363Pro) c.1255A>C (p.Thr419Pro) | |
| 16 | g.89285166_89285169del | CA645596984 | ANKRD11 | c.1381_1384del (p.Glu461GlnfsTer?) c.*1184_*1187del (n.*1184_*1187del) c.1006_1009del (p.Glu336GlnfsTer?) c.744+3367_744+3370del (n.744+3367_744+3370del) n.3153_3156del n.1373_1376del c.151+3367_151+3370del c.1279_1282del (p.Glu427GlnfsTer?) c.1084_1087del (p.Glu362GlnfsTer?) c.1252_1255del (p.Glu418GlnfsTer?) | ClinVar dbSNP COSMIC |
| 16 | g.89285159T>A | CA397165068 | ANKRD11 | c.1383A>T (p.Glu461Asp) c.*1186A>T (n.*1186A>T) c.1008A>T (p.Glu336Asp) c.744+3369A>T (n.744+3369A>T) n.3155A>T n.1375A>T c.151+3369A>T c.1281A>T (p.Glu427Asp) c.1086A>T (p.Glu362Asp) c.1254A>T (p.Glu418Asp) | ClinVar |
| 16 | g.89285159T>C | CA497375421 | ANKRD11 | c.1383A>G (p.Glu461=) c.*1186A>G (n.*1186A>G) c.1008A>G (p.Glu336=) c.744+3369A>G (n.744+3369A>G) n.3155A>G n.1375A>G c.151+3369A>G c.1281A>G (p.Glu427=) c.1086A>G (p.Glu362=) c.1254A>G (p.Glu418=) | ClinVar |
| 16 | g.89285159T>G | CA397165069 | ANKRD11 | c.1383A>C (p.Glu461Asp) c.*1186A>C (n.*1186A>C) c.1008A>C (p.Glu336Asp) c.744+3369A>C (n.744+3369A>C) n.3155A>C n.1375A>C c.151+3369A>C c.1281A>C (p.Glu427Asp) c.1086A>C (p.Glu362Asp) c.1254A>C (p.Glu418Asp) | |
| 16 | g.89285159_89285161delinsTTC | CA2241603257 | ANKRD11 | c.1381_1383delinsGAA (p.Glu461=) c.*1184_*1186delinsGAA (n.*1184_*1186delinsGAA) c.1006_1008delinsGAA (p.Glu336=) c.744+3367_744+3369delinsGAA (n.744+3367_744+3369delinsGAA) n.3153_3155delinsGAA n.1373_1375delinsGAA c.151+3367_151+3369delinsGAA c.1279_1281delinsGAA (p.Glu427=) c.1084_1086delinsGAA (p.Glu362=) c.1252_1254delinsGAA (p.Glu418=) | |
| 16 | g.89285160T>A | CA397165070 | ANKRD11 | c.1382A>T (p.Glu461Val) c.*1185A>T (n.*1185A>T) c.1007A>T (p.Glu336Val) c.744+3368A>T (n.744+3368A>T) n.3154A>T n.1374A>T c.151+3368A>T c.1280A>T (p.Glu427Val) c.1085A>T (p.Glu362Val) c.1253A>T (p.Glu418Val) | |
| 16 | g.89285160T>C | CA397165071 | ANKRD11 | c.1382A>G (p.Glu461Gly) c.*1185A>G (n.*1185A>G) c.1007A>G (p.Glu336Gly) c.744+3368A>G (n.744+3368A>G) n.3154A>G n.1374A>G c.151+3368A>G c.1280A>G (p.Glu427Gly) c.1085A>G (p.Glu362Gly) c.1253A>G (p.Glu418Gly) | |
| 16 | g.89285160T>G | CA397165072 | ANKRD11 | c.1382A>C (p.Glu461Ala) c.*1185A>C (n.*1185A>C) c.1007A>C (p.Glu336Ala) c.744+3368A>C (n.744+3368A>C) n.3154A>C n.1374A>C c.151+3368A>C c.1280A>C (p.Glu427Ala) c.1085A>C (p.Glu362Ala) c.1253A>C (p.Glu418Ala) | |
| 16 | g.89285161_89285162del | CA658798669 | ANKRD11 | c.1381_1382del (p.Glu461AsnfsTer?) c.*1184_*1185del (n.*1184_*1185del) c.1006_1007del (p.Glu336AsnfsTer?) c.744+3367_744+3368del (n.744+3367_744+3368del) n.3153_3154del n.1373_1374del c.151+3367_151+3368del c.1279_1280del (p.Glu427AsnfsTer?) c.1084_1085del (p.Glu362AsnfsTer?) c.1252_1253del (p.Glu418AsnfsTer?) | ClinVar dbSNP |
| 16 | g.89285161C>A | CA397165073 | ANKRD11 | c.1381G>T (p.Glu461Ter) c.*1184G>T (n.*1184G>T) c.1006G>T (p.Glu336Ter) c.744+3367G>T (n.744+3367G>T) n.3153G>T n.1373G>T c.151+3367G>T c.1279G>T (p.Glu427Ter) c.1084G>T (p.Glu362Ter) c.1252G>T (p.Glu418Ter) | |
| 16 | g.89285161C= | CA2241603260 | ANKRD11 | c.1381G= (p.Glu461=) c.*1184G= (n.*1184G=) c.1006G= (p.Glu336=) c.744+3367G= (n.744+3367G=) n.3153G= n.1373G= c.151+3367G= c.1279G= (p.Glu427=) c.1084G= (p.Glu362=) c.1252G= (p.Glu418=) | |
| 16 | g.89285161C>G | CA397165074 | ANKRD11 | c.1381G>C (p.Glu461Gln) c.*1184G>C (n.*1184G>C) c.1006G>C (p.Glu336Gln) c.744+3367G>C (n.744+3367G>C) n.3153G>C n.1373G>C c.151+3367G>C c.1279G>C (p.Glu427Gln) c.1084G>C (p.Glu362Gln) c.1252G>C (p.Glu418Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89285161C>T | CA397165075 | ANKRD11 | c.1381G>A (p.Glu461Lys) c.*1184G>A (n.*1184G>A) c.1006G>A (p.Glu336Lys) c.744+3367G>A (n.744+3367G>A) n.3153G>A n.1373G>A c.151+3367G>A c.1279G>A (p.Glu427Lys) c.1084G>A (p.Glu362Lys) c.1252G>A (p.Glu418Lys) | gnomAD v4 |
| 16 | g.89285162T>A | CA397165076 | ANKRD11 | c.1380A>T (p.Lys460Asn) c.*1183A>T (n.*1183A>T) c.1005A>T (p.Lys335Asn) c.744+3366A>T (n.744+3366A>T) n.3152A>T n.1372A>T c.151+3366A>T c.1278A>T (p.Lys426Asn) c.1083A>T (p.Lys361Asn) c.1251A>T (p.Lys417Asn) | |
| 16 | g.89285162T>C | CA286521581 | ANKRD11 | c.1380A>G (p.Lys460=) c.*1183A>G (n.*1183A>G) c.1005A>G (p.Lys335=) c.744+3366A>G (n.744+3366A>G) n.3152A>G n.1372A>G c.151+3366A>G c.1278A>G (p.Lys426=) c.1083A>G (p.Lys361=) c.1251A>G (p.Lys417=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89285162T>G | CA397165077 | ANKRD11 | c.1380A>C (p.Lys460Asn) c.*1183A>C (n.*1183A>C) c.1005A>C (p.Lys335Asn) c.744+3366A>C (n.744+3366A>C) n.3152A>C n.1372A>C c.151+3366A>C c.1278A>C (p.Lys426Asn) c.1083A>C (p.Lys361Asn) c.1251A>C (p.Lys417Asn) | |
| 16 | g.89285162T= | CA2241603262 | ANKRD11 | c.1380A= (p.Lys460=) c.*1183A= (n.*1183A=) c.1005A= (p.Lys335=) c.744+3366A= (n.744+3366A=) n.3152A= n.1372A= c.151+3366A= c.1278A= (p.Lys426=) c.1083A= (p.Lys361=) c.1251A= (p.Lys417=) | |
| 16 | g.89285163T>A | CA397165078 | ANKRD11 | c.1379A>T (p.Lys460Ile) c.*1182A>T (n.*1182A>T) c.1004A>T (p.Lys335Ile) c.744+3365A>T (n.744+3365A>T) n.3151A>T n.1371A>T c.151+3365A>T c.1277A>T (p.Lys426Ile) c.1082A>T (p.Lys361Ile) c.1250A>T (p.Lys417Ile) | |
| 16 | g.89285163T>C | CA397165079 | ANKRD11 | c.1379A>G (p.Lys460Arg) c.*1182A>G (n.*1182A>G) c.1004A>G (p.Lys335Arg) c.744+3365A>G (n.744+3365A>G) n.3151A>G n.1371A>G c.151+3365A>G c.1277A>G (p.Lys426Arg) c.1082A>G (p.Lys361Arg) c.1250A>G (p.Lys417Arg) | |
| 16 | g.89285163T>G | CA397165080 | ANKRD11 | c.1379A>C (p.Lys460Thr) c.*1182A>C (n.*1182A>C) c.1004A>C (p.Lys335Thr) c.744+3365A>C (n.744+3365A>C) n.3151A>C n.1371A>C c.151+3365A>C c.1277A>C (p.Lys426Thr) c.1082A>C (p.Lys361Thr) c.1250A>C (p.Lys417Thr) | |
| 16 | g.89285164T>A | CA397165081 | ANKRD11 | c.1378A>T (p.Lys460Ter) c.*1181A>T (n.*1181A>T) c.1003A>T (p.Lys335Ter) c.744+3364A>T (n.744+3364A>T) n.3150A>T n.1370A>T c.151+3364A>T c.1276A>T (p.Lys426Ter) c.1081A>T (p.Lys361Ter) c.1249A>T (p.Lys417Ter) |