HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085853_186085857del , CM000666.2:g.186085853_186085857del | GRCh38 |
NC_000004.11:g.187007007_187007011del , CM000666.1:g.187007007_187007011del | GRCh37 |
NC_000004.10:g.187244001_187244005del | NCBI36 |
NG_007278.1:g.21699_21703del , LRG_117:g.21699_21703del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3247_*3251del | ENSP00000513675.1:n.*3247_*3251del | |
ENST00000698353.1:n.3570_3574del | ||
ENST00000698354.1:c.*980_*984del | ENSP00000513676.1:n.*980_*984del | |
ENST00000296795.8:c.*980_*984del MANE Select | ENSP00000296795.3:n.*980_*984del | |
ENST00000296795.7:c.*980_*984del | ENSP00000296795.2:n.*980_*984del | |
NM_003265.3:c.*980_*984del MANE Select | NP_003256.1:n.*980_*984del |