Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169179del , CM000683.2:g.43169179del | GRCh38 |
| NG_009823.1:g.5149del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.80del MANE Select | ENSP00000291554.2:p.Phe27SerfsTer? | |
| ENST00000482775.1:n.93del | ||
| NM_000394.3:c.80del | NP_000385.1:p.Phe27SerfsTer? | |
| XR_001755073.1:n.647+1862del | ||
| NM_000394.4:c.80del MANE Select | NP_000385.1:p.Phe27SerfsTer? |