HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945597_138945598del , CM000665.2:g.138945597_138945598del | GRCh38 |
NC_000003.11:g.138664439_138664440del , CM000665.1:g.138664439_138664440del | GRCh37 |
NC_000003.10:g.140147129_140147130del | NCBI36 |
NG_012454.1:g.6546_6547del | |
NG_029796.1:g.3364_3365del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.1128_1129del MANE Select | ENSP00000497217.1:p.Ter377ArgextTer? | |
ENST00000330315.3:c.1128_1129del | ENSP00000333188.3:p.Ter377ArgextTer? | |
NM_023067.3:c.1128_1129del | NP_075555.1:p.Ter377ArgextTer? | |
NM_023067.4:c.1128_1129del MANE Select | NP_075555.1:p.Ter377ArgextTer? |