HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271151_31271153del , CM000668.2:g.31271151_31271153del | GRCh38 |
NC_000006.11:g.31238928_31238930del , CM000668.1:g.31238928_31238930del | GRCh37 |
NC_000006.10:g.31346907_31346909del | NCBI36 |
NG_029422.2:g.5979_5981del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.539_541del MANE Select | ENSP00000365402.5:p.Leu180del | |
ENST00000376228.9:c.539_541del | ENSP00000365402.5:p.Leu180del | |
ENST00000376237.8:c.*126_*128del | ENSP00000365412.4:n.*126_*128del | |
ENST00000383329.7:c.539_541del | ENSP00000372819.3:p.Leu180del | |
ENST00000415537.1:c.537_539del | ||
ENST00000484378.1:n.808_810del | ||
ENST00000487245.5:n.898_900del | ||
ENST00000495835.1:n.728_730del | ||
NM_002117.5:c.539_541del | NP_002108.4:p.Leu180del | |
NM_002117.6:c.539_541del MANE Select | NP_002108.4:p.Leu180del |