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.47844920_47844921insAGGCAGCGTTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGG | CA2618497253 | VDR | c.1202_1203insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr401Ter) c.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (n.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA) c.1352_1353insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr451Ter) c.1271_1272insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr424Ter) | gnomAD v4 |
| 12 | g.47844883T>A | CA384514245 | VDR | c.1147A>T (p.Met383Leu) c.*1149A>T (n.*1149A>T) c.1297A>T (p.Met433Leu) c.1216A>T (p.Met406Leu) | |
| 12 | g.47844883T>C | CA384514248 | VDR | c.1147A>G (p.Met383Val) c.*1149A>G (n.*1149A>G) c.1297A>G (p.Met433Val) c.1216A>G (p.Met406Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844883T>G | CA384514247 | VDR | c.1147A>C (p.Met383Leu) c.*1149A>C (n.*1149A>C) c.1297A>C (p.Met433Leu) c.1216A>C (p.Met406Leu) | |
| 12 | g.47844883T= | CA2034408968 | VDR | c.1147A= (p.Met383=) c.*1149A= (n.*1149A=) c.1297A= (p.Met433=) c.1216A= (p.Met406=) | |
| 12 | g.47844884C>A | CA384514249 | VDR | c.1146G>T (p.Lys382Asn) c.*1148G>T (n.*1148G>T) c.1296G>T (p.Lys432Asn) c.1215G>T (p.Lys405Asn) | |
| 12 | g.47844884C>G | CA384514250 | VDR | c.1146G>C (p.Lys382Asn) c.*1148G>C (n.*1148G>C) c.1296G>C (p.Lys432Asn) c.1215G>C (p.Lys405Asn) | |
| 12 | g.47844884C>T | CA479696501 | VDR | c.1146G>A (p.Lys382=) c.*1148G>A (n.*1148G>A) c.1296G>A (p.Lys432=) c.1215G>A (p.Lys405=) | |
| 12 | g.47844885T>A | CA384514251 | VDR | c.1145A>T (p.Lys382Met) c.*1147A>T (n.*1147A>T) c.1295A>T (p.Lys432Met) c.1214A>T (p.Lys405Met) | |
| 12 | g.47844885T>C | CA6533734 | VDR | c.1145A>G (p.Lys382Arg) c.*1147A>G (n.*1147A>G) c.1295A>G (p.Lys432Arg) c.1214A>G (p.Lys405Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844885T>G | CA384514253 | VDR | c.1145A>C (p.Lys382Thr) c.*1147A>C (n.*1147A>C) c.1295A>C (p.Lys432Thr) c.1214A>C (p.Lys405Thr) | |
| 12 | g.47844885T= | CA2034408969 | VDR | c.1145A= (p.Lys382=) c.*1147A= (n.*1147A=) c.1295A= (p.Lys432=) c.1214A= (p.Lys405=) | |
| 12 | g.47844886T>A | CA384514256 | VDR | c.1144A>T (p.Lys382Ter) c.*1146A>T (n.*1146A>T) c.1294A>T (p.Lys432Ter) c.1213A>T (p.Lys405Ter) | |
| 12 | g.47844886T>C | CA384514257 | VDR | c.1144A>G (p.Lys382Glu) c.*1146A>G (n.*1146A>G) c.1294A>G (p.Lys432Glu) c.1213A>G (p.Lys405Glu) | |
| 12 | g.47844886T>G | CA384514254 | VDR | c.1144A>C (p.Lys382Gln) c.*1146A>C (n.*1146A>C) c.1294A>C (p.Lys432Gln) c.1213A>C (p.Lys405Gln) | |
| 12 | g.47844887G>A | CA479696504 | VDR | c.1143C>T (p.Ala381=) c.*1145C>T (n.*1145C>T) c.1293C>T (p.Ala431=) c.1212C>T (p.Ala404=) | |
| 12 | g.47844887G>C | CA479696503 | VDR | c.1143C>G (p.Ala381=) c.*1145C>G (n.*1145C>G) c.1293C>G (p.Ala431=) c.1212C>G (p.Ala404=) | |
| 12 | g.47844887G>T | CA479696502 | VDR | c.1143C>A (p.Ala381=) c.*1145C>A (n.*1145C>A) c.1293C>A (p.Ala431=) c.1212C>A (p.Ala404=) | |
| 12 | g.47844888G>A | CA384514259 | VDR | c.1142C>T (p.Ala381Val) c.*1144C>T (n.*1144C>T) c.1292C>T (p.Ala431Val) c.1211C>T (p.Ala404Val) | |
| 12 | g.47844888G>C | CA384514261 | VDR | c.1142C>G (p.Ala381Gly) c.*1144C>G (n.*1144C>G) c.1292C>G (p.Ala431Gly) c.1211C>G (p.Ala404Gly) | |
| 12 | g.47844888G>T | CA384514263 | VDR | c.1142C>A (p.Ala381Asp) c.*1144C>A (n.*1144C>A) c.1292C>A (p.Ala431Asp) c.1211C>A (p.Ala404Asp) | |
| 12 | g.47844889C>A | CA384514264 | VDR | c.1141G>T (p.Ala381Ser) c.*1143G>T (n.*1143G>T) c.1291G>T (p.Ala431Ser) c.1210G>T (p.Ala404Ser) | |
| 12 | g.47844889C>G | CA384514266 | VDR | c.1141G>C (p.Ala381Pro) c.*1143G>C (n.*1143G>C) c.1291G>C (p.Ala431Pro) c.1210G>C (p.Ala404Pro) | |
| 12 | g.47844889C>T | CA384514268 | VDR | c.1141G>A (p.Ala381Thr) c.*1143G>A (n.*1143G>A) c.1291G>A (p.Ala431Thr) c.1210G>A (p.Ala404Thr) | |
| 12 | g.47844890A>C | CA384514269 | VDR | c.1140T>G (p.Tyr380Ter) c.*1142T>G (n.*1142T>G) c.1290T>G (p.Tyr430Ter) c.1209T>G (p.Tyr403Ter) | |
| 12 | g.47844890A>G | CA479696505 | VDR | c.1140T>C (p.Tyr380=) c.*1142T>C (n.*1142T>C) c.1290T>C (p.Tyr430=) c.1209T>C (p.Tyr403=) | gnomAD v4 |
| 12 | g.47844890A>T | CA384514271 | VDR | c.1140T>A (p.Tyr380Ter) c.*1142T>A (n.*1142T>A) c.1290T>A (p.Tyr430Ter) c.1209T>A (p.Tyr403Ter) | |
| 12 | g.47844891T>A | CA384514272 | VDR | c.1139A>T (p.Tyr380Phe) c.*1141A>T (n.*1141A>T) c.1289A>T (p.Tyr430Phe) c.1208A>T (p.Tyr403Phe) | |
| 12 | g.47844891T>C | CA384514276 | VDR | c.1139A>G (p.Tyr380Cys) c.*1141A>G (n.*1141A>G) c.1289A>G (p.Tyr430Cys) c.1208A>G (p.Tyr403Cys) | |
| 12 | g.47844891T>G | CA384514274 | VDR | c.1139A>C (p.Tyr380Ser) c.*1141A>C (n.*1141A>C) c.1289A>C (p.Tyr430Ser) c.1208A>C (p.Tyr403Ser) | |
| 12 | g.47844892A>C | CA384514278 | VDR | c.1138T>G (p.Tyr380Asp) c.*1140T>G (n.*1140T>G) c.1288T>G (p.Tyr430Asp) c.1207T>G (p.Tyr403Asp) | |
| 12 | g.47844892A>G | CA384514279 | VDR | c.1138T>C (p.Tyr380His) c.*1140T>C (n.*1140T>C) c.1288T>C (p.Tyr430His) c.1207T>C (p.Tyr403His) | |
| 12 | g.47844892A>T | CA384514281 | VDR | c.1138T>A (p.Tyr380Asn) c.*1140T>A (n.*1140T>A) c.1288T>A (p.Tyr430Asn) c.1207T>A (p.Tyr403Asn) | |
| 12 | g.47844893G>A | CA479696506 | VDR | c.1137C>T (p.Leu379=) c.*1139C>T (n.*1139C>T) c.1287C>T (p.Leu429=) c.1206C>T (p.Leu402=) | gnomAD v4 |
| 12 | g.47844893G>C | CA6533735 | VDR | c.1137C>G (p.Leu379=) c.*1139C>G (n.*1139C>G) c.1287C>G (p.Leu429=) c.1206C>G (p.Leu402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844893G= | CA2034408970 | VDR | c.1137C= (p.Leu379=) c.*1139C= (n.*1139C=) c.1287C= (p.Leu429=) c.1206C= (p.Leu402=) | |
| 12 | g.47844893G>T | CA479696507 | VDR | c.1137C>A (p.Leu379=) c.*1139C>A (n.*1139C>A) c.1287C>A (p.Leu429=) c.1206C>A (p.Leu402=) | |
| 12 | g.47844894A>C | CA384514283 | VDR | c.1136T>G (p.Leu379Arg) c.*1138T>G (n.*1138T>G) c.1286T>G (p.Leu429Arg) c.1205T>G (p.Leu402Arg) | |
| 12 | g.47844894A>G | CA384514286 | VDR | c.1136T>C (p.Leu379Pro) c.*1138T>C (n.*1138T>C) c.1286T>C (p.Leu429Pro) c.1205T>C (p.Leu402Pro) | |
| 12 | g.47844894A>T | CA384514285 | VDR | c.1136T>A (p.Leu379His) c.*1138T>A (n.*1138T>A) c.1286T>A (p.Leu429His) c.1205T>A (p.Leu402His) | |
| 12 | g.47844895G>A | CA384514289 | VDR | c.1135C>T (p.Leu379Phe) c.*1137C>T (n.*1137C>T) c.1285C>T (p.Leu429Phe) c.1204C>T (p.Leu402Phe) | COSMIC |
| 12 | g.47844895G>C | CA384514290 | VDR | c.1135C>G (p.Leu379Val) c.*1137C>G (n.*1137C>G) c.1285C>G (p.Leu429Val) c.1204C>G (p.Leu402Val) | |
| 12 | g.47844895G>T | CA384514291 | VDR | c.1135C>A (p.Leu379Ile) c.*1137C>A (n.*1137C>A) c.1285C>A (p.Leu429Ile) c.1204C>A (p.Leu402Ile) | gnomAD v4 |
| 12 | g.47844896C>A | CA6533736 | VDR | c.1134G>T (p.Leu378=) c.*1136G>T (n.*1136G>T) c.1284G>T (p.Leu428=) c.1203G>T (p.Leu401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844896C= | CA2034408971 | VDR | c.1134G= (p.Leu378=) c.*1136G= (n.*1136G=) c.1284G= (p.Leu428=) c.1203G= (p.Leu401=) | |
| 12 | g.47844896C>G | CA479696508 | VDR | c.1134G>C (p.Leu378=) c.*1136G>C (n.*1136G>C) c.1284G>C (p.Leu428=) c.1203G>C (p.Leu401=) | gnomAD v4 |
| 12 | g.47844896C>T | CA479696509 | VDR | c.1134G>A (p.Leu378=) c.*1136G>A (n.*1136G>A) c.1284G>A (p.Leu428=) c.1203G>A (p.Leu401=) | ClinVar |
| 12 | g.47844897A= | CA2034408973 | VDR | c.1133T= (p.Leu378=) c.*1135T= (n.*1135T=) c.1283T= (p.Leu428=) c.1202T= (p.Leu401=) | |
| 12 | g.47844897A>C | CA384514293 | VDR | c.1133T>G (p.Leu378Arg) c.*1135T>G (n.*1135T>G) c.1283T>G (p.Leu428Arg) c.1202T>G (p.Leu401Arg) | |
| 12 | g.47844897A>G | CA384514295 | VDR | c.1133T>C (p.Leu378Pro) c.*1135T>C (n.*1135T>C) c.1283T>C (p.Leu428Pro) c.1202T>C (p.Leu401Pro) | dbSNP gnomAD v2 |