HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867181_215867183dup , CM000663.2:g.215867181_215867183dup | GRCh38 |
NC_000001.10:g.216040523_216040525dup , CM000663.1:g.216040523_216040525dup | GRCh37 |
NC_000001.9:g.214107146_214107148dup | NCBI36 |
NG_009497.1:g.561218_561220dup | |
NG_009497.2:g.561270_561272dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8682-9_8682-7dup MANE Select | ENSP00000305941.3:n.8682-9_8682-7dup | |
ENST00000674083.1:c.8682-9_8682-7dup | ENSP00000501296.1:n.8682-9_8682-7dup | |
ENST00000307340.7:c.8682-9_8682-7dup | ENSP00000305941.3:n.8682-9_8682-7dup | |
NM_206933.2:c.8682-9_8682-7dup | NP_996816.2:n.8682-9_8682-7dup | |
NM_206933.3:c.8682-9_8682-7dup | NP_996816.2:n.8682-9_8682-7dup | |
NM_206933.4:c.8682-9_8682-7dup MANE Select | NP_996816.3:n.8682-9_8682-7dup |