Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123406_78123407del , CM000685.2:g.78123406_78123407del | GRCh38 |
| NC_000023.10:g.77378903_77378904del , CM000685.1:g.77378903_77378904del | GRCh37 |
| NC_000023.9:g.77265559_77265560del | NCBI36 |
| NG_008862.1:g.24238_24239del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.936+32_936+33del MANE Select | ENSP00000362413.4:n.936+32_936+33del | |
| ENST00000644362.1:c.852+32_852+33del | ENSP00000496140.1:n.852+32_852+33del | |
| ENST00000373316.4:c.936+32_936+33del | ENSP00000362413.4:n.936+32_936+33del | |
| NM_000291.3:c.936+32_936+33del | NP_000282.1:n.936+32_936+33del | |
| NM_000291.4:c.936+32_936+33del MANE Select | NP_000282.1:n.936+32_936+33del |