HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169053del , CM000683.2:g.43169053del | GRCh38 |
NG_009823.1:g.5023del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.-47del MANE Select | ENSP00000291554.2:n.-47del | |
NM_000394.3:c.-47del | NP_000385.1:n.-47del | |
XR_001755073.1:n.647+1987del | ||
NM_000394.4:c.-47del MANE Select | NP_000385.1:n.-47del |