HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945863_138945879del , CM000665.2:g.138945863_138945879del | GRCh38 |
NC_000003.11:g.138664705_138664721del , CM000665.1:g.138664705_138664721del | GRCh37 |
NC_000003.10:g.140147395_140147411del | NCBI36 |
NG_012454.1:g.6273_6289del | |
NG_029796.1:g.3630_3646del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.855_871del MANE Select | ENSP00000497217.1:p.Pro287AlafsTer? | |
ENST00000330315.3:c.855_871del | ENSP00000333188.3:p.Pro287AlafsTer? | |
NM_023067.3:c.855_871del | NP_075555.1:p.Pro287AlafsTer? | |
NM_023067.4:c.855_871del MANE Select | NP_075555.1:p.Pro287AlafsTer? |