HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204190741_204190747dup , CM000663.2:g.204190741_204190747dup | GRCh38 |
NC_000001.10:g.204159869_204159875dup , CM000663.1:g.204159869_204159875dup | GRCh37 |
NC_000001.9:g.202426492_202426498dup | NCBI36 |
NG_032151.1:g.10748_10754dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367194.5:c.157_163dup MANE Select | ENSP00000356162.4:p.Glu55ValfsTer? | |
ENST00000367194.4:c.157_163dup | ENSP00000356162.4:p.Glu55ValfsTer? | |
ENST00000625357.1:c.157_163dup | ENSP00000485957.1:p.Glu55ValfsTer? | |
NM_002256.3:c.157_163dup | NP_002247.3:p.Glu55ValfsTer? | |
XM_011509525.1:c.157_163dup | XP_011507827.1:p.Glu55ValfsTer? | |
NM_002256.4:c.157_163dup MANE Select | NP_002247.3:p.Glu55ValfsTer? |