HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519856_52519857del , CM000674.2:g.52519856_52519857del | GRCh38 |
NC_000012.11:g.52913640_52913641del , CM000674.1:g.52913640_52913641del | GRCh37 |
NC_000012.10:g.51199907_51199908del | NCBI36 |
NG_008297.1:g.5605_5606del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.442_443del MANE Select | ENSP00000252242.4:p.Leu149ProfsTer29 | |
ENST00000252242.8:c.442_443del | ENSP00000252242.4:p.Leu149ProfsTer29 | |
ENST00000549420.1:c.112_113del | ENSP00000447209.1:p.Leu39ProfsTer29 | |
ENST00000551275.1:c.337_338del | ENSP00000448041.1:p.Leu114ProfsTer29 | |
ENST00000552629.5:n.540_541del | ||
NM_000424.3:c.442_443del | NP_000415.2:p.Leu149ProfsTer29 | |
NM_000424.4:c.442_443del MANE Select | NP_000415.2:p.Leu149ProfsTer29 |