HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431140_68431170del , CM000663.2:g.68431140_68431170del | GRCh38 |
NC_000001.10:g.68896823_68896853del , CM000663.1:g.68896823_68896853del | GRCh37 |
NC_000001.9:g.68669411_68669441del | NCBI36 |
NG_008472.1:g.23790_23820del | |
NG_008472.2:g.23790_23820del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1345_1375del MANE Select | ENSP00000262340.5:p.Lys449PhefsTer27 | |
ENST00000262340.5:c.1345_1375del | ENSP00000262340.5:p.Lys449PhefsTer27 | |
NM_000329.2:c.1345_1375del | NP_000320.1:p.Lys449PhefsTer27 | |
XM_017002027.1:c.1069_1099del | XP_016857516.1:p.Lys357PhefsTer27 | |
NM_000329.3:c.1345_1375del MANE Select | NP_000320.1:p.Lys449PhefsTer27 |