HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159886549del , CM000663.2:g.159886549del | GRCh38 |
NC_000001.10:g.159856339del , CM000663.1:g.159856339del | GRCh37 |
NC_000001.9:g.158122963del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368099.9:c.730del MANE Select | ENSP00000357079.4:p.Glu244ArgfsTer? | |
ENST00000368099.8:c.730del | ENSP00000357079.4:p.Glu244ArgfsTer? | |
ENST00000426543.6:c.475del | ENSP00000403044.2:p.Glu159ArgfsTer? | |
ENST00000476696.5:c.730del | ENSP00000483972.1:p.Glu244ArgfsTer? | |
NM_012337.2:c.730del | NP_036469.2:p.Glu244ArgfsTer? | |
NM_012337.3:c.730del MANE Select | NP_036469.2:p.Glu244ArgfsTer? |