HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154049_55154050del , CM000681.2:g.55154049_55154050del | GRCh38 |
NC_000019.9:g.55665417_55665418del , CM000681.1:g.55665417_55665418del | GRCh37 |
NC_000019.8:g.60357229_60357230del | NCBI36 |
NG_007866.2:g.8683_8684del , LRG_432:g.8683_8684del | |
NG_011829.2:g.189_190del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.529_530del MANE Select | ENSP00000341838.5:p.Lys177GlufsTer? | |
ENST00000665070.1:c.562_563del | ENSP00000499482.1:p.Lys188GlufsTer? | |
ENST00000344887.9:c.529_530del | ENSP00000341838.5:p.Lys177GlufsTer? | |
ENST00000585806.5:n.528_529del | ||
ENST00000588882.1:c.454_455del | ENSP00000466729.1:p.Lys152GlufsTer? | |
ENST00000589864.1:n.357_358del | ||
NM_000363.4:c.529_530del , LRG_432t1:c.529_530del | NP_000354.4:p.Lys177GlufsTer? | |
NM_000363.5:c.529_530del MANE Select | NP_000354.4:p.Lys177GlufsTer? |