HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154969479del , CM000685.2:g.154969479del | GRCh38 |
NC_000023.10:g.154197754del , CM000685.1:g.154197754del | GRCh37 |
NC_000023.9:g.153850948del | NCBI36 |
NG_011403.1:g.58246del | |
NG_011403.2:g.58246del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.862del MANE Select | ENSP00000353393.4:p.Ile288TyrfsTer10 | |
ENST00000647125.1:c.*738del | ENSP00000496062.1:n.*738del | |
ENST00000360256.8:c.862del | ENSP00000353393.4:p.Ile288TyrfsTer10 | |
NM_000132.3:c.862del | NP_000123.1:p.Ile288TyrfsTer10 | |
XM_011531126.1:c.757del | XP_011529428.1:p.Ile253TyrfsTer10 | |
NM_000132.4:c.862del MANE Select | NP_000123.1:p.Ile288TyrfsTer10 |