HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114800_140114806del , CM000667.2:g.140114800_140114806del | GRCh38 |
NC_000005.9:g.139494385_139494391del , CM000667.1:g.139494385_139494391del | GRCh37 |
NC_000005.8:g.139474569_139474575del | NCBI36 |
NG_041813.1:g.5678_5684del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.619_625del MANE Select | ENSP00000332706.3:p.Asp207ThrfsTer16 | |
ENST00000651386.1:c.619_625del | ENSP00000499133.1:p.Asp207ThrfsTer16 | |
ENST00000331327.4:c.619_625del | ENSP00000332706.3:p.Asp207ThrfsTer16 | |
NM_005859.4:c.619_625del | NP_005850.1:p.Asp207ThrfsTer16 | |
NM_005859.5:c.619_625del MANE Select | NP_005850.1:p.Asp207ThrfsTer16 |