Linked Data
dbSNP Id:
rs1908566768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942284_63942309del , CM000679.2:g.63942284_63942309del | GRCh38 |
| NC_000017.10:g.62019644_62019669del , CM000679.1:g.62019644_62019669del | GRCh37 |
| NC_000017.9:g.59373376_59373401del | NCBI36 |
| NG_011699.1:g.35611_35636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4289-315_4289-290del MANE Select | ENSP00000396320.1:n.4289-315_4289-290del | |
| ENST00000578147.5:c.4289-315_4289-290del | ENSP00000463963.1:n.4289-315_4289-290del | |
| NM_000334.4:c.4289-315_4289-290del MANE Select | NP_000325.4:n.4289-315_4289-290del | |
| XM_005257566.3:c.4289-315_4289-290del | XP_005257623.1:n.4289-315_4289-290del |