HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762804del , CM000672.2:g.94762804del | GRCh38 |
NG_008384.2:g.5099del | |
NG_008384.3:g.5124del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.99del MANE Select | ENSP00000360372.3:p.Thr34LeufsTer5 | |
ENST00000371321.7:c.99del | ENSP00000360372.3:p.Thr34LeufsTer5 | |
ENST00000464755.1:c.932-12254del | ENSP00000483243.1:n.932-12254del | |
ENST00000480405.2:c.99del | ENSP00000483847.1:p.Thr34LeufsTer5 | |
NM_000769.2:c.99del | NP_000760.1:p.Thr34LeufsTer5 | |
NM_000769.4:c.99del MANE Select | NP_000760.1:p.Thr34LeufsTer5 |