Linked Data
ClinVar Variation Id:
283614
dbSNP Id:
rs779350415
ExAC:
1:78407843 T / TA
gnomAD v2:
1-78407843-T-TA
gnomAD v3:
1-77942158-T-TA
gnomAD v4:
1-77942158-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942158_77942159insA , CM000663.2:g.77942158_77942159insA | GRCh38 |
| NC_000001.10:g.78407843_78407844insA , CM000663.1:g.78407843_78407844insA | GRCh37 |
| NC_000001.9:g.78180431_78180432insA | NCBI36 |
| NG_016625.1:g.58644_58645insA , LRG_442:g.58644_58645insA | |
| NG_033243.2:g.41935_41936insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1609_1610insA MANE Select | ENSP00000333938.7:p.Leu537TyrfsTer7 | |
| ENST00000330010.12:c.1417_1418insA | ENSP00000327363.8:p.Leu473TyrfsTer7 | |
| ENST00000334785.11:c.1609_1610insA | ENSP00000333938.7:p.Leu537TyrfsTer7 | |
| ENST00000342754.5:c.1308_1309insA | ||
| ENST00000470735.1:n.448_449insA | ||
| ENST00000480732.2:n.1183_1184insA | ||
| NM_001172309.1:c.1417_1418insA | NP_001165780.1:p.Leu473TyrfsTer7 | |
| NM_144573.3:c.1609_1610insA , LRG_442t1:c.1609_1610insA | NP_653174.3:p.Leu537TyrfsTer7 | |
| XM_005271322.2:c.1609_1610insA | XP_005271379.1:p.Leu537TyrfsTer7 | |
| XM_005271323.2:c.1567_1568insA | XP_005271380.1:p.Leu523TyrfsTer7 | |
| XM_005271324.3:c.1417_1418insA | XP_005271381.1:p.Leu473TyrfsTer7 | |
| XM_005271325.2:c.1387_1388insA | XP_005271382.1:p.Leu463TyrfsTer7 | |
| XM_005271326.2:c.1375_1376insA | XP_005271383.1:p.Leu459TyrfsTer7 | |
| XM_005271327.2:c.1192_1193insA | XP_005271384.1:p.Leu398TyrfsTer7 | |
| XM_005271322.4:c.1609_1610insA | XP_005271379.1:p.Leu537TyrfsTer7 | |
| XM_005271323.4:c.1567_1568insA | XP_005271380.1:p.Leu523TyrfsTer7 | |
| XM_005271324.5:c.1417_1418insA | XP_005271381.1:p.Leu473TyrfsTer7 | |
| XM_005271325.4:c.1387_1388insA | XP_005271382.1:p.Leu463TyrfsTer7 | |
| XM_005271326.4:c.1375_1376insA | XP_005271383.1:p.Leu459TyrfsTer7 | |
| XM_005271327.4:c.1192_1193insA | XP_005271384.1:p.Leu398TyrfsTer7 | |
| NM_001172309.2:c.1417_1418insA | NP_001165780.1:p.Leu473TyrfsTer7 | |
| NM_144573.4:c.1609_1610insA MANE Select | NP_653174.3:p.Leu537TyrfsTer7 |