HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259444_24259445del , CM000676.2:g.24259444_24259445del | GRCh38 |
NC_000014.8:g.24728650_24728651del , CM000676.1:g.24728650_24728651del | GRCh37 |
NC_000014.7:g.23798490_23798491del | NCBI36 |
NG_007150.1:g.8725_8726del | |
NG_007150.2:g.8725_8726del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.985-193_985-192del MANE Select | ENSP00000206765.6:n.985-193_985-192del | |
ENST00000206765.10:c.985-193_985-192del | ENSP00000206765.6:n.985-193_985-192del | |
ENST00000544573.5:c.-28-1054_-28-1053del | ENSP00000439446.1:n.-28-1054_-28-1053del | |
ENST00000559136.1:c.58-193_58-192del | ENSP00000453337.1:n.58-193_58-192del | |
NM_000359.2:c.985-193_985-192del | NP_000350.1:n.985-193_985-192del | |
NM_000359.3:c.985-193_985-192del MANE Select | NP_000350.1:n.985-193_985-192del |