HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461695_122461700dup , CM000672.2:g.122461695_122461700dup | GRCh38 |
NC_000010.10:g.124221211_124221216dup , CM000672.1:g.124221211_124221216dup | GRCh37 |
NC_000010.9:g.124211201_124211206dup | NCBI36 |
NG_011554.1:g.5171_5176dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.43_48dup MANE Select | ENSP00000357980.3:p.Leu16_Ala17insLeuLeu | |
ENST00000648167.1:c.154+2986_154+2991dup | ENSP00000498033.1:n.154+2986_154+2991dup | |
ENST00000368984.7:c.43_48dup | ENSP00000357980.3:p.Leu16_Ala17insLeuLeu | |
NM_002775.4:c.43_48dup | NP_002766.1:p.Leu16_Ala17insLeuLeu | |
NM_002775.5:c.43_48dup MANE Select | NP_002766.1:p.Leu16_Ala17insLeuLeu |