HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71030632_71030634del , CM000666.2:g.71030632_71030634del | GRCh38 |
NC_000004.11:g.71896349_71896351del , CM000666.1:g.71896349_71896351del | GRCh37 |
NC_000004.10:g.72115213_72115215del | NCBI36 |
NG_023303.1:g.42085_42087del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286648.10:c.*1254_*1256del MANE Select | ENSP00000286648.5:n.*1254_*1256del | |
ENST00000286648.9:c.*1254_*1256del | ENSP00000286648.5:n.*1254_*1256del | |
ENST00000503359.5:c.*1981_*1983del | ENSP00000426389.1:n.*1981_*1983del | |
ENST00000504730.5:c.*1321_*1323del | ENSP00000425578.1:n.*1321_*1323del | |
ENST00000504952.1:c.*1180_*1182del | ENSP00000421508.1:n.*1180_*1182del | |
NM_000788.2:c.*1254_*1256del | NP_000779.1:n.*1254_*1256del | |
NM_000788.3:c.*1254_*1256del MANE Select | NP_000779.1:n.*1254_*1256del |