HGVS | Genome Assembly |
---|---|
NC_000017.11:g.48728235_48728255del , CM000679.2:g.48728235_48728255del | GRCh38 |
NC_000017.10:g.46805597_46805617del , CM000679.1:g.46805597_46805617del | GRCh37 |
NC_000017.9:g.44160596_44160616del | NCBI36 |
NG_033789.1:g.5495_5515del , LRG_771:g.5495_5515del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290295.8:c.339_359del MANE Select | ENSP00000290295.8:p.Pro114_Tyr120del | |
ENST00000290295.7:c.339_359del | ENSP00000290295.7:p.Pro114_Tyr120del | |
NM_006361.5:c.339_359del , LRG_771t1:c.339_359del | NP_006352.2:p.Pro114_Tyr120del | |
NM_006361.6:c.339_359del MANE Select | NP_006352.2:p.Pro114_Tyr120del |