HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085869_186085872del , CM000666.2:g.186085869_186085872del | GRCh38 |
NC_000004.11:g.187007023_187007026del , CM000666.1:g.187007023_187007026del | GRCh37 |
NC_000004.10:g.187244017_187244020del | NCBI36 |
NG_007278.1:g.21715_21718del , LRG_117:g.21715_21718del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3263_*3266del | ENSP00000513675.1:n.*3263_*3266del | |
ENST00000698353.1:n.3586_3589del | ||
ENST00000698354.1:c.*996_*999del | ENSP00000513676.1:n.*996_*999del | |
ENST00000296795.8:c.*996_*999del MANE Select | ENSP00000296795.3:n.*996_*999del | |
ENST00000296795.7:c.*996_*999del | ENSP00000296795.2:n.*996_*999del | |
NM_003265.3:c.*996_*999del MANE Select | NP_003256.1:n.*996_*999del |