HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516559_52516561del , CM000674.2:g.52516559_52516561del | GRCh38 |
NC_000012.11:g.52910343_52910345del , CM000674.1:g.52910343_52910345del | GRCh37 |
NC_000012.10:g.51196610_51196612del | NCBI36 |
NG_008297.1:g.8899_8901del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+76_1439+78del MANE Select | ENSP00000252242.4:n.1439+76_1439+78del | |
ENST00000252242.8:c.1439+76_1439+78del | ENSP00000252242.4:n.1439+76_1439+78del | |
ENST00000548409.5:c.561+76_561+78del | ||
ENST00000549511.5:n.646+76_646+78del | ||
ENST00000552629.5:n.1613_1615del | ||
NM_000424.3:c.1439+76_1439+78del | NP_000415.2:n.1439+76_1439+78del | |
NM_000424.4:c.1439+76_1439+78del MANE Select | NP_000415.2:n.1439+76_1439+78del |