HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50915820_50915823del , CM000685.2:g.50915820_50915823del | GRCh38 |
NC_000023.10:g.50658820_50658823del , CM000685.1:g.50658820_50658823del | GRCh37 |
NC_000023.9:g.50675560_50675563del | NCBI36 |
NG_012894.1:g.10037_10040del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.392_395del MANE Select | ENSP00000252677.3:p.Val131GlufsTer12 | |
ENST00000252677.3:c.392_395del | ENSP00000252677.3:p.Val131GlufsTer12 | |
NM_005448.2:c.392_395del MANE Select | NP_005439.2:p.Val131GlufsTer12 |