HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76968458_76968460del , CM000667.2:g.76968458_76968460del | GRCh38 |
NC_000005.9:g.76264283_76264285del , CM000667.1:g.76264283_76264285del | GRCh37 |
NC_000005.8:g.76300039_76300041del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274368.9:c.812-270_812-268del MANE Select | ENSP00000274368.4:n.812-270_812-268del | |
ENST00000274368.8:c.812-270_812-268del | ENSP00000274368.4:n.812-270_812-268del | |
ENST00000503763.1:n.227-270_227-268del | ||
ENST00000514258.1:n.311+4998_311+5000del | ||
NM_001882.3:c.812-270_812-268del | NP_001873.2:n.812-270_812-268del | |
XR_948235.1:n.1111+4998_1111+5000del | ||
XR_948235.3:n.1091+4998_1091+5000del | ||
NM_001882.4:c.812-270_812-268del MANE Select | NP_001873.2:n.812-270_812-268del |