HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445171_2445173del , CM000673.2:g.2445171_2445173del | GRCh38 |
NC_000011.9:g.2466401_2466403del , CM000673.1:g.2466401_2466403del | GRCh37 |
NC_000011.8:g.2422977_2422979del | NCBI36 |
NG_008935.1:g.5181_5183del , LRG_287:g.5181_5183del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.24-212_24-210del | ENSP00000434560.2:n.24-212_24-210del | |
ENST00000646564.2:c.73_75del | ENSP00000495806.2:p.Arg25del | |
ENST00000155840.12:c.73_75del MANE Select | ENSP00000155840.2:p.Arg25del | |
ENST00000155840.9:c.73_75del | ENSP00000155840.2:p.Arg25del | |
ENST00000496887.6:c.24-212_24-210del | ENSP00000434560.1:n.24-212_24-210del | |
NM_000218.2:c.73_75del , LRG_287t1:c.73_75del | NP_000209.2:p.Arg25del | |
NM_000218.3:c.73_75del MANE Select | NP_000209.2:p.Arg25del |