HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780789_6780790insTTGT , CM000679.2:g.6780789_6780790insTTGT | GRCh38 |
NC_000017.10:g.6684108_6684109insTTGT , CM000679.1:g.6684108_6684109insTTGT | GRCh37 |
NC_000017.9:g.6624832_6624833insTTGT | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.921_922insTTGT MANE Select | ENSP00000321386.4:p.Ile308LeufsTer14 | |
ENST00000321535.4:c.921_922insTTGT | ENSP00000321386.4:p.Ile308LeufsTer14 | |
NM_153230.2:c.921_922insTTGT | NP_694962.1:p.Ile308LeufsTer14 | |
XM_011523697.1:c.921_922insTTGT | XP_011521999.1:p.Ile308LeufsTer14 | |
XR_243544.3:n.1099_1100insTTGT | ||
NM_153230.3:c.921_922insTTGT MANE Select | NP_694962.1:p.Ile308LeufsTer14 |