HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516458_52516469del , CM000674.2:g.52516458_52516469del | GRCh38 |
NC_000012.11:g.52910242_52910253del , CM000674.1:g.52910242_52910253del | GRCh37 |
NC_000012.10:g.51196509_51196520del | NCBI36 |
NG_008297.1:g.8997_9008del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+174_1439+185del MANE Select | ENSP00000252242.4:n.1439+174_1439+185del | |
ENST00000252242.8:c.1439+174_1439+185del | ENSP00000252242.4:n.1439+174_1439+185del | |
ENST00000548409.5:c.561+174_561+185del | ||
ENST00000549511.5:n.646+174_646+185del | ||
ENST00000552629.5:n.1711_1722del | ||
NM_000424.3:c.1439+174_1439+185del | NP_000415.2:n.1439+174_1439+185del | |
NM_000424.4:c.1439+174_1439+185del MANE Select | NP_000415.2:n.1439+174_1439+185del |