HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945889del , CM000665.2:g.138945889del | GRCh38 |
NC_000003.11:g.138664731del , CM000665.1:g.138664731del | GRCh37 |
NC_000003.10:g.140147421del | NCBI36 |
NG_012454.1:g.6252del | |
NG_029796.1:g.3656del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.834del MANE Select | ENSP00000497217.1:p.Gly279AlafsTer? | |
ENST00000330315.3:c.834del | ENSP00000333188.3:p.Gly279AlafsTer? | |
NM_023067.3:c.834del | NP_075555.1:p.Gly279AlafsTer? | |
NM_023067.4:c.834del MANE Select | NP_075555.1:p.Gly279AlafsTer? |