HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516335_52516337del , CM000674.2:g.52516335_52516337del | GRCh38 |
NC_000012.11:g.52910119_52910121del , CM000674.1:g.52910119_52910121del | GRCh37 |
NC_000012.10:g.51196386_51196388del | NCBI36 |
NG_008297.1:g.9123_9125del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+300_1439+302del MANE Select | ENSP00000252242.4:n.1439+300_1439+302del | |
ENST00000252242.8:c.1439+300_1439+302del | ENSP00000252242.4:n.1439+300_1439+302del | |
ENST00000548409.5:c.561+300_561+302del | ||
ENST00000549511.5:n.646+300_646+302del | ||
ENST00000552629.5:n.1837_1839del | ||
NM_000424.3:c.1439+300_1439+302del | NP_000415.2:n.1439+300_1439+302del | |
NM_000424.4:c.1439+300_1439+302del MANE Select | NP_000415.2:n.1439+300_1439+302del |