HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766429_45766431del , CM000681.2:g.45766429_45766431del | GRCh38 |
NC_000019.9:g.46269687_46269689del , CM000681.1:g.46269687_46269689del | GRCh37 |
NC_000019.8:g.50961527_50961529del | NCBI36 |
NG_012745.1:g.7813_7815del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1532_1534del MANE Select | ENSP00000316842.4:p.Ala511del | |
ENST00000317578.6:c.1532_1534del | ENSP00000316842.4:p.Ala511del | |
ENST00000560160.1:c.587-316_587-314del | ||
ENST00000560168.1:c.*720_*722del | ENSP00000453189.2:n.*720_*722del | |
ENST00000622857.1:c.16-465_16-463del | ENSP00000481365.1:n.16-465_16-463del | |
NM_175875.4:c.1532_1534del | NP_787071.2:p.Ala511del | |
NM_175875.5:c.1532_1534del MANE Select | NP_787071.3:p.Ala511del |