HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33850964del , CM000682.2:g.33850964del | GRCh38 |
NC_000020.10:g.32438770del , CM000682.1:g.32438770del | GRCh37 |
NC_000020.9:g.31902431del | NCBI36 |
NG_015820.1:g.44661del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217402.3:c.381del MANE Select | ENSP00000217402.2:p.Val128LeufsTer4 | |
ENST00000217402.2:c.381del | ENSP00000217402.2:p.Val128LeufsTer4 | |
NM_176812.4:c.381del | NP_789782.1:p.Val128LeufsTer4 | |
NM_176812.5:c.381del MANE Select | NP_789782.1:p.Val128LeufsTer4 |