HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713750del , CM000663.2:g.114713750del | GRCh38 |
NC_000001.10:g.115256371del , CM000663.1:g.115256371del | GRCh37 |
NC_000001.9:g.115057894del | NCBI36 |
NG_007572.1:g.8145del , LRG_92:g.8145del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.290+50del MANE Select | ENSP00000358548.4:n.290+50del | |
ENST00000369535.4:c.290+50del | ENSP00000358548.4:n.290+50del | |
NM_002524.4:c.290+50del | NP_002515.1:n.290+50del | |
NM_002524.5:c.290+50del MANE Select | NP_002515.1:n.290+50del |