HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3084257_3084260del , CM000682.2:g.3084257_3084260del | GRCh38 |
NC_000020.10:g.3064903_3064906del , CM000682.1:g.3064903_3064906del | GRCh37 |
NC_000020.9:g.3012903_3012906del | NCBI36 |
NG_008663.1:g.5467_5470del , LRG_715:g.5467_5470del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.120+297_120+300del MANE Select | ENSP00000369647.3:n.120+297_120+300del | |
NM_000490.4:c.120+297_120+300del , LRG_715t1:c.120+297_120+300del | NP_000481.2:n.120+297_120+300del | |
XM_011529267.1:c.120+297_120+300del | XP_011527569.1:n.120+297_120+300del | |
XM_011529267.2:c.120+297_120+300del | XP_011527569.1:n.120+297_120+300del | |
NM_000490.5:c.120+297_120+300del MANE Select | NP_000481.2:n.120+297_120+300del |