HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780858_6780861del , CM000679.2:g.6780858_6780861del | GRCh38 |
NC_000017.10:g.6684177_6684180del , CM000679.1:g.6684177_6684180del | GRCh37 |
NC_000017.9:g.6624901_6624904del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.990_993del MANE Select | ENSP00000321386.4:p.Asp331SerfsTer12 | |
ENST00000321535.4:c.990_993del | ENSP00000321386.4:p.Asp331SerfsTer12 | |
NM_153230.2:c.990_993del | NP_694962.1:p.Asp331SerfsTer12 | |
XM_011523697.1:c.990_993del | XP_011521999.1:p.Asp331SerfsTer12 | |
XR_243544.3:n.1168_1171del | ||
NM_153230.3:c.990_993del MANE Select | NP_694962.1:p.Asp331SerfsTer12 |