HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940812_67940825del , CM000678.2:g.67940812_67940825del | GRCh38 |
NC_000016.9:g.67974715_67974728del , CM000678.1:g.67974715_67974728del | GRCh37 |
NC_000016.8:g.66532216_66532229del | NCBI36 |
NG_009778.1:g.8289_8302del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-346_749-333del MANE Select | ENSP00000264005.5:n.749-346_749-333del | |
ENST00000264005.9:c.749-346_749-333del | ENSP00000264005.5:n.749-346_749-333del | |
ENST00000570369.5:c.156-750_156-737del | ||
ENST00000570980.1:c.533-346_533-333del | ENSP00000464651.1:n.533-346_533-333del | |
ENST00000573538.5:c.399_412del | ENSP00000463220.1:p.Ser134LeufsTer11 | |
NM_000229.1:c.749-346_749-333del | NP_000220.1:n.749-346_749-333del | |
NM_000229.2:c.749-346_749-333del MANE Select | NP_000220.1:n.749-346_749-333del |