Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172107_43172109del , CM000683.2:g.43172107_43172109del | GRCh38 |
| NG_009823.1:g.8077_8079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.349_351del MANE Select | ENSP00000291554.2:p.Arg117del | |
| ENST00000398132.1:c.238_240del | ENSP00000381200.1:p.Arg80del | |
| ENST00000398133.5:c.289_291del | ENSP00000381201.1:p.Arg97del | |
| ENST00000468016.1:n.450_452del | ||
| ENST00000482775.1:n.430_432del | ||
| NM_000394.3:c.349_351del | NP_000385.1:p.Arg117del | |
| XM_005261093.2:c.238_240del | XP_005261150.1:p.Arg80del | |
| NM_001363766.1:c.238_240del | NP_001350695.1:p.Arg80del | |
| NM_000394.4:c.349_351del MANE Select | NP_000385.1:p.Arg117del |