HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734187_4734189delinsCAG , CM000679.2:g.4734187_4734189delinsCAG | GRCh38 |
NC_000017.10:g.4637482_4637484delinsCAG , CM000679.1:g.4637482_4637484delinsCAG | GRCh37 |
NC_000017.9:g.4584231_4584233delinsCAG | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*314_*316delinsCTG MANE Select | ENSP00000293778.7:n.*314_*316delinsCTG | |
ENST00000293778.10:c.*314_*316delinsCTG | ENSP00000293778.6:n.*314_*316delinsCTG | |
ENST00000576153.5:n.870_872delinsCTG | ||
NM_022059.3:c.*314_*316delinsCTG | NP_071342.2:n.*314_*316delinsCTG | |
NM_022059.4:c.*314_*316delinsCTG | NP_071342.2:n.*314_*316delinsCTG | |
NM_001386809.1:c.*314_*316delinsCTG MANE Select | NP_001373738.1:n.*314_*316delinsCTG |