HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867281_215867283del , CM000663.2:g.215867281_215867283del | GRCh38 |
NC_000001.10:g.216040623_216040625del , CM000663.1:g.216040623_216040625del | GRCh37 |
NC_000001.9:g.214107246_214107248del | NCBI36 |
NG_009497.1:g.561115_561117del | |
NG_009497.2:g.561167_561169del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8682-112_8682-110del MANE Select | ENSP00000305941.3:n.8682-112_8682-110del | |
ENST00000674083.1:c.8682-112_8682-110del | ENSP00000501296.1:n.8682-112_8682-110del | |
ENST00000307340.7:c.8682-112_8682-110del | ENSP00000305941.3:n.8682-112_8682-110del | |
NM_206933.2:c.8682-112_8682-110del | NP_996816.2:n.8682-112_8682-110del | |
NM_206933.3:c.8682-112_8682-110del | NP_996816.2:n.8682-112_8682-110del | |
NM_206933.4:c.8682-112_8682-110del MANE Select | NP_996816.3:n.8682-112_8682-110del |