HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911332_42911334del , CM000679.2:g.42911332_42911334del | GRCh38 |
NC_000017.10:g.41063349_41063351del , CM000679.1:g.41063349_41063351del | GRCh37 |
NC_000017.9:g.38316875_38316877del | NCBI36 |
NG_011808.1:g.15535_15537del , LRG_147:g.15535_15537del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.980_982del MANE Select | ENSP00000253801.1:p.Phe327del | |
ENST00000253801.6:c.980_982del | ENSP00000253801.1:p.Phe327del | |
ENST00000585489.1:c.*372_*374del | ENSP00000466202.1:n.*372_*374del | |
ENST00000592383.5:c.*372_*374del | ENSP00000465958.1:n.*372_*374del | |
NM_000151.3:c.980_982del | NP_000142.2:p.Phe327del | |
NM_001270397.1:c.*372_*374del | NP_001257326.1:n.*372_*374del | |
NM_000151.4:c.980_982del MANE Select | NP_000142.2:p.Phe327del | |
NM_001270397.2:c.*372_*374del | NP_001257326.1:n.*372_*374del |