HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3084140_3084144del , CM000682.2:g.3084140_3084144del | GRCh38 |
NC_000020.10:g.3064786_3064790del , CM000682.1:g.3064786_3064790del | GRCh37 |
NC_000020.9:g.3012786_3012790del | NCBI36 |
NG_008663.1:g.5581_5585del , LRG_715:g.5581_5585del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.120+411_120+415del MANE Select | ENSP00000369647.3:n.120+411_120+415del | |
NM_000490.4:c.120+411_120+415del , LRG_715t1:c.120+411_120+415del | NP_000481.2:n.120+411_120+415del | |
XM_011529267.1:c.120+411_120+415del | XP_011527569.1:n.120+411_120+415del | |
XM_011529267.2:c.120+411_120+415del | XP_011527569.1:n.120+411_120+415del | |
NM_000490.5:c.120+411_120+415del MANE Select | NP_000481.2:n.120+411_120+415del |