HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516340_52516341del , CM000674.2:g.52516340_52516341del | GRCh38 |
NC_000012.11:g.52910124_52910125del , CM000674.1:g.52910124_52910125del | GRCh37 |
NC_000012.10:g.51196391_51196392del | NCBI36 |
NG_008297.1:g.9119_9120del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+296_1439+297del MANE Select | ENSP00000252242.4:n.1439+296_1439+297del | |
ENST00000252242.8:c.1439+296_1439+297del | ENSP00000252242.4:n.1439+296_1439+297del | |
ENST00000548409.5:c.561+296_561+297del | ||
ENST00000549511.5:n.646+296_646+297del | ||
ENST00000552629.5:n.1833_1834del | ||
NM_000424.3:c.1439+296_1439+297del | NP_000415.2:n.1439+296_1439+297del | |
NM_000424.4:c.1439+296_1439+297del MANE Select | NP_000415.2:n.1439+296_1439+297del |