HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72189875_72189876del , CM000673.2:g.72189875_72189876del | GRCh38 |
NC_000011.9:g.71900919_71900920del , CM000673.1:g.71900919_71900920del | GRCh37 |
NC_000011.8:g.71578567_71578568del | NCBI36 |
NG_015863.1:g.5318_5319del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312293.9:c.-9+116_-9+117del | ENSP00000308137.4:n.-9+116_-9+117del | |
ENST00000312293.8:c.-9+116_-9+117del | ENSP00000308137.4:n.-9+116_-9+117del | |
ENST00000393681.6:c.-75+116_-75+117del | ENSP00000377286.2:n.-75+116_-75+117del | |
NM_016724.2:c.-75+116_-75+117del | NP_057936.1:n.-75+116_-75+117del | |
NM_016725.2:c.-9+116_-9+117del | NP_057937.1:n.-9+116_-9+117del | |
NM_016724.3:c.-75+116_-75+117del | NP_057936.1:n.-75+116_-75+117del | |
NM_016725.3:c.-9+116_-9+117del | NP_057937.1:n.-9+116_-9+117del |