HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269993_31269996delinsCGGT , CM000668.2:g.31269993_31269996delinsCGGT | GRCh38 |
NC_000006.11:g.31237770_31237773delinsCGGT , CM000668.1:g.31237770_31237773delinsCGGT | GRCh37 |
NC_000006.10:g.31345749_31345752delinsCGGT | NCBI36 |
NG_029422.2:g.7136_7139delinsACCG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.985_988delinsACCG MANE Select | ENSP00000365402.5:p.Thr329= | |
ENST00000376228.9:c.985_988delinsACCG | ENSP00000365402.5:p.Thr329= | |
ENST00000376237.8:c.*572_*575delinsACCG | ENSP00000365412.4:n.*572_*575delinsACCG | |
ENST00000383329.7:c.985_988delinsACCG | ENSP00000372819.3:p.Thr329= | |
ENST00000470363.5:n.303_306delinsACCG | ||
ENST00000487245.5:n.1344_1347delinsACCG | ||
NM_002117.5:c.985_988delinsACCG | NP_002108.4:p.Thr329= | |
NM_002117.6:c.985_988delinsACCG MANE Select | NP_002108.4:p.Thr329= |