HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3083154del , CM000682.2:g.3083154del | GRCh38 |
NC_000020.10:g.3063800del , CM000682.1:g.3063800del | GRCh37 |
NC_000020.9:g.3011800del | NCBI36 |
NG_008663.1:g.6573del , LRG_715:g.6573del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.147del MANE Select | ENSP00000369647.3:p.Gly50AlafsTer? | |
NM_000490.4:c.147del , LRG_715t1:c.147del | NP_000481.2:p.Gly50AlafsTer? | |
XM_011529267.1:c.147del | XP_011527569.1:p.Gly50AlafsTer? | |
XM_011529267.2:c.147del | XP_011527569.1:p.Gly50AlafsTer? | |
NM_000490.5:c.147del MANE Select | NP_000481.2:p.Gly50AlafsTer? |