HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472317_122472321del , CM000672.2:g.122472317_122472321del | GRCh38 |
NC_000010.10:g.124231833_124231837del , CM000672.1:g.124231833_124231837del | GRCh37 |
NC_000010.9:g.124221823_124221827del | NCBI36 |
NG_011554.1:g.15793_15797del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10193_472+10197del MANE Select | ENSP00000357980.3:n.472+10193_472+10197del | |
ENST00000648167.1:c.154+13608_154+13612del | ENSP00000498033.1:n.154+13608_154+13612del | |
ENST00000368984.7:c.472+10193_472+10197del | ENSP00000357980.3:n.472+10193_472+10197del | |
NM_002775.4:c.472+10193_472+10197del | NP_002766.1:n.472+10193_472+10197del | |
NM_002775.5:c.472+10193_472+10197del MANE Select | NP_002766.1:n.472+10193_472+10197del |