HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867210_215867212del , CM000663.2:g.215867210_215867212del | GRCh38 |
NC_000001.10:g.216040552_216040554del , CM000663.1:g.216040552_216040554del | GRCh37 |
NC_000001.9:g.214107175_214107177del | NCBI36 |
NG_009497.1:g.561187_561189del | |
NG_009497.2:g.561239_561241del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8682-40_8682-38del MANE Select | ENSP00000305941.3:n.8682-40_8682-38del | |
ENST00000674083.1:c.8682-40_8682-38del | ENSP00000501296.1:n.8682-40_8682-38del | |
ENST00000307340.7:c.8682-40_8682-38del | ENSP00000305941.3:n.8682-40_8682-38del | |
NM_206933.2:c.8682-40_8682-38del | NP_996816.2:n.8682-40_8682-38del | |
NM_206933.3:c.8682-40_8682-38del | NP_996816.2:n.8682-40_8682-38del | |
NM_206933.4:c.8682-40_8682-38del MANE Select | NP_996816.3:n.8682-40_8682-38del |