HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21558741_21558743del , CM000669.2:g.21558741_21558743del | GRCh38 |
NC_000007.13:g.21598359_21598361del , CM000669.1:g.21598359_21598361del | GRCh37 |
NC_000007.12:g.21564884_21564886del | NCBI36 |
NG_012886.2:g.20527_20529del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.496-61_496-59del MANE Select | ENSP00000475939.1:n.496-61_496-59del | |
ENST00000328843.10:c.496-61_496-59del | ENSP00000330671.7:n.496-61_496-59del | |
ENST00000409508.7:c.496-61_496-59del | ENSP00000475939.1:n.496-61_496-59del | |
ENST00000620169.4:c.496-61_496-59del | ENSP00000481693.1:n.496-61_496-59del | |
NM_001277115.1:c.496-61_496-59del | NP_001264044.1:n.496-61_496-59del | |
NM_001277115.2:c.496-61_496-59del MANE Select | NP_001264044.1:n.496-61_496-59del |