HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782587_58782590del , CM000663.2:g.58782587_58782590del | GRCh38 |
NC_000001.10:g.59248259_59248262del , CM000663.1:g.59248259_59248262del | GRCh37 |
NC_000001.9:g.59020847_59020850del | NCBI36 |
NG_047027.1:g.6527_6530del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.550_553del | ENSP00000518166.1:p.Ser184CysfsTer19 | |
ENST00000371222.4:c.484_487del MANE Select | ENSP00000360266.2:p.Ser162CysfsTer19 | |
ENST00000678696.1:c.484_487del | ENSP00000503132.1:p.Ser162CysfsTer19 | |
ENST00000371222.3:c.484_487del | ENSP00000360266.2:p.Ser162CysfsTer19 | |
NM_002228.3:c.484_487del | NP_002219.1:p.Ser162CysfsTer19 | |
NM_002228.4:c.484_487del MANE Select | NP_002219.1:p.Ser162CysfsTer19 |