HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766994del , CM000681.2:g.45766994del | GRCh38 |
NC_000019.9:g.46270252del , CM000681.1:g.46270252del | GRCh37 |
NC_000019.8:g.50962092del | NCBI36 |
NG_012745.1:g.7246del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.965del MANE Select | ENSP00000316842.4:p.Leu322ArgfsTer2 | |
ENST00000317578.6:c.965del | ENSP00000316842.4:p.Leu322ArgfsTer2 | |
ENST00000560160.1:c.587-883del | ||
ENST00000560168.1:c.*153del | ENSP00000453189.2:n.*153del | |
ENST00000622857.1:c.16-1032del | ENSP00000481365.1:n.16-1032del | |
NM_175875.4:c.965del | NP_787071.2:p.Leu322ArgfsTer2 | |
NM_175875.5:c.965del MANE Select | NP_787071.3:p.Leu322ArgfsTer2 |