HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21880758_21880759del , CM000669.2:g.21880758_21880759del | GRCh38 |
NC_000007.13:g.21920376_21920377del , CM000669.1:g.21920376_21920377del | GRCh37 |
NC_000007.12:g.21886901_21886902del | NCBI36 |
NG_012886.2:g.342544_342545del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.12252_12253del MANE Select | ENSP00000475939.1:p.Cys4085LeufsTer24 | |
ENST00000328843.10:c.12273_12274del | ENSP00000330671.7:p.Cys4092LeufsTer24 | |
ENST00000409508.7:c.12252_12253del | ENSP00000475939.1:p.Cys4085LeufsTer24 | |
ENST00000620169.4:c.12273_12274del | ENSP00000481693.1:p.Cys4092LeufsTer24 | |
NM_001277115.1:c.12252_12253del | NP_001264044.1:p.Cys4085LeufsTer24 | |
NM_001277115.2:c.12252_12253del MANE Select | NP_001264044.1:p.Cys4085LeufsTer24 |