HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24658593_24658596del , CM000668.2:g.24658593_24658596del | GRCh38 |
NC_000006.11:g.24658821_24658824del , CM000668.1:g.24658821_24658824del | GRCh37 |
NC_000006.10:g.24766800_24766803del | NCBI36 |
NG_052787.1:g.13294_13297del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378198.9:c.392_395del MANE Select | ENSP00000367440.4:p.Glu131GlyfsTer9 | |
ENST00000341060.3:c.218_221del | ENSP00000345345.3:p.Glu73GlyfsTer9 | |
ENST00000378198.8:c.392_395del | ENSP00000367440.4:p.Glu131GlyfsTer9 | |
ENST00000478285.1:n.579_582del | ||
ENST00000478507.1:n.320-5441_320-5438del | ||
NM_016614.2:c.392_395del | NP_057698.2:p.Glu131GlyfsTer9 | |
XR_926244.1:n.519_522del | ||
NM_016614.3:c.392_395del MANE Select | NP_057698.2:p.Glu131GlyfsTer9 |