HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44287265_44287266del , CM000683.2:g.44287265_44287266del | GRCh38 |
NC_000021.8:g.45707148_45707149del , CM000683.1:g.45707148_45707149del | GRCh37 |
NC_000021.7:g.44531576_44531577del | NCBI36 |
NG_009556.1:g.6386_6387del , LRG_18:g.6386_6387del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.463+132_463+133del MANE Select | ENSP00000291582.5:n.463+132_463+133del | |
ENST00000291582.5:c.463+132_463+133del | ENSP00000291582.5:n.463+132_463+133del | |
ENST00000527919.5:n.756_757del | ||
ENST00000530812.5:n.764_765del | ||
NM_000383.3:c.463+132_463+133del | NP_000374.1:n.463+132_463+133del | |
XM_011529551.1:c.463+132_463+133del | XP_011527853.1:n.463+132_463+133del | |
NM_000383.4:c.463+132_463+133del MANE Select | NP_000374.1:n.463+132_463+133del |