HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739688_120739744del , CM000674.2:g.120739688_120739744del | GRCh38 |
NC_000012.11:g.121177491_121177547del , CM000674.1:g.121177491_121177547del | GRCh37 |
NC_000012.10:g.119661874_119661930del | NCBI36 |
NG_007991.1:g.18921_18977del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*240_*296del MANE Select | ENSP00000242592.4:n.*240_*296del | |
ENST00000242592.8:c.*240_*296del | ENSP00000242592.4:n.*240_*296del | |
NM_000017.3:c.*240_*296del | NP_000008.1:n.*240_*296del | |
NM_001302554.1:c.*240_*296del | NP_001289483.1:n.*240_*296del | |
NM_000017.4:c.*240_*296del MANE Select | NP_000008.1:n.*240_*296del | |
NM_001302554.2:c.*240_*296del | NP_001289483.1:n.*240_*296del |