HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186086099_186086100del , CM000666.2:g.186086099_186086100del | GRCh38 |
NC_000004.11:g.187007253_187007254del , CM000666.1:g.187007253_187007254del | GRCh37 |
NC_000004.10:g.187244247_187244248del | NCBI36 |
NG_007278.1:g.21945_21946del , LRG_117:g.21945_21946del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3493_*3494del | ENSP00000513675.1:n.*3493_*3494del | |
ENST00000698353.1:n.3816_3817del | ||
ENST00000698354.1:c.*1226_*1227del | ENSP00000513676.1:n.*1226_*1227del | |
ENST00000296795.8:c.*1226_*1227del MANE Select | ENSP00000296795.3:n.*1226_*1227del | |
ENST00000296795.7:c.*1226_*1227del | ENSP00000296795.2:n.*1226_*1227del | |
NM_003265.3:c.*1226_*1227del MANE Select | NP_003256.1:n.*1226_*1227del |