HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516330_52516331del , CM000674.2:g.52516330_52516331del | GRCh38 |
NC_000012.11:g.52910114_52910115del , CM000674.1:g.52910114_52910115del | GRCh37 |
NC_000012.10:g.51196381_51196382del | NCBI36 |
NG_008297.1:g.9129_9130del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+306_1439+307del MANE Select | ENSP00000252242.4:n.1439+306_1439+307del | |
ENST00000252242.8:c.1439+306_1439+307del | ENSP00000252242.4:n.1439+306_1439+307del | |
ENST00000548409.5:c.561+306_561+307del | ||
ENST00000549511.5:n.646+306_646+307del | ||
ENST00000552629.5:n.1843_1844del | ||
NM_000424.3:c.1439+306_1439+307del | NP_000415.2:n.1439+306_1439+307del | |
NM_000424.4:c.1439+306_1439+307del MANE Select | NP_000415.2:n.1439+306_1439+307del |