Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169011del , CM000683.2:g.43169011del | GRCh38 |
| NG_009823.1:g.4981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-89del MANE Select | ENSP00000291554.2:n.-89del | |
| NM_000394.3:c.-89del | NP_000385.1:n.-89del | |
| XR_001755073.1:n.647+2028del | ||
| NM_000394.4:c.-89del MANE Select | NP_000385.1:n.-89del |