HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44290207_44290210del , CM000683.2:g.44290207_44290210del | GRCh38 |
NC_000021.8:g.45710090_45710093del , CM000683.1:g.45710090_45710093del | GRCh37 |
NC_000021.7:g.44534518_44534521del | NCBI36 |
NG_009556.1:g.9328_9331del , LRG_18:g.9328_9331del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.879+139_879+142del MANE Select | ENSP00000291582.5:n.879+139_879+142del | |
ENST00000291582.5:c.879+139_879+142del | ENSP00000291582.5:n.879+139_879+142del | |
ENST00000527919.5:n.1612+139_1612+142del | ||
ENST00000530812.5:n.2629+139_2629+142del | ||
NM_000383.3:c.879+139_879+142del | NP_000374.1:n.879+139_879+142del | |
XM_011529551.1:c.879+139_879+142del | XP_011527853.1:n.879+139_879+142del | |
NM_000383.4:c.879+139_879+142del MANE Select | NP_000374.1:n.879+139_879+142del |