HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766423del , CM000681.2:g.45766423del | GRCh38 |
NC_000019.9:g.46269681del , CM000681.1:g.46269681del | GRCh37 |
NC_000019.8:g.50961521del | NCBI36 |
NG_012745.1:g.7819del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1538del MANE Select | ENSP00000316842.4:p.Pro513LeufsTer13 | |
ENST00000317578.6:c.1538del | ENSP00000316842.4:p.Pro513LeufsTer13 | |
ENST00000560160.1:c.587-310del | ||
ENST00000560168.1:c.*726del | ENSP00000453189.2:n.*726del | |
ENST00000622857.1:c.16-459del | ENSP00000481365.1:n.16-459del | |
NM_175875.4:c.1538del | NP_787071.2:p.Pro513LeufsTer13 | |
NM_175875.5:c.1538del MANE Select | NP_787071.3:p.Pro513LeufsTer13 |