HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911486_42911488del , CM000679.2:g.42911486_42911488del | GRCh38 |
NC_000017.10:g.41063503_41063505del , CM000679.1:g.41063503_41063505del | GRCh37 |
NC_000017.9:g.38317029_38317031del | NCBI36 |
NG_011808.1:g.15689_15691del , LRG_147:g.15689_15691del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.*60_*62del MANE Select | ENSP00000253801.1:n.*60_*62del | |
ENST00000253801.6:c.*60_*62del | ENSP00000253801.1:n.*60_*62del | |
ENST00000585489.1:c.*526_*528del | ENSP00000466202.1:n.*526_*528del | |
NM_000151.3:c.*60_*62del | NP_000142.2:n.*60_*62del | |
NM_001270397.1:c.*526_*528del | NP_001257326.1:n.*526_*528del | |
NM_000151.4:c.*60_*62del MANE Select | NP_000142.2:n.*60_*62del | |
NM_001270397.2:c.*526_*528del | NP_001257326.1:n.*526_*528del |