HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319026del , CM000673.2:g.6319026del | GRCh38 |
NC_000011.9:g.6340256del , CM000673.1:g.6340256del | GRCh37 |
NC_000011.8:g.6296832del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.*139del MANE Select | ENSP00000307292.3:n.*139del | |
ENST00000303927.3:c.*139del | ENSP00000307292.3:n.*139del | |
ENST00000532354.1:n.947del | ||
NM_145040.2:c.*139del | NP_659477.2:n.*139del | |
XR_930997.1:n.720+806del | ||
NM_145040.3:c.*139del MANE Select | NP_659477.2:n.*139del |