HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24256033del , CM000676.2:g.24256033del | GRCh38 |
NC_000014.8:g.24725239del , CM000676.1:g.24725239del | GRCh37 |
NC_000014.7:g.23795079del | NCBI36 |
NG_007150.1:g.12135del | |
NG_007150.2:g.12135del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1448del MANE Select | ENSP00000206765.6:p.Gly483AlafsTer5 | |
ENST00000206765.10:c.1448del | ENSP00000206765.6:p.Gly483AlafsTer5 | |
ENST00000544573.5:c.122del | ENSP00000439446.1:p.Gly41AlafsTer5 | |
ENST00000559136.1:c.521del | ENSP00000453337.1:p.Gly174AlafsTer5 | |
NM_000359.2:c.1448del | NP_000350.1:p.Gly483AlafsTer5 | |
NM_000359.3:c.1448del MANE Select | NP_000350.1:p.Gly483AlafsTer5 |