HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19962787_19962789delinsCTG , CM000670.2:g.19962787_19962789delinsCTG | GRCh38 |
NC_000008.10:g.19820298_19820300delinsCTG , CM000670.1:g.19820298_19820300delinsCTG | GRCh37 |
NC_000008.9:g.19864578_19864580delinsCTG | NCBI36 |
NG_008855.1:g.28717_28719delinsCTG | |
NG_008855.2:g.66071_66073delinsCTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1427+568_1427+570delinsCTG MANE Select | ENSP00000497642.1:n.1427+568_1427+570delinsCTG | |
ENST00000650478.1:c.367+568_367+570delinsCTG | ENSP00000497560.1:n.367+568_367+570delinsCTG | |
ENST00000311322.8:c.1427+568_1427+570delinsCTG | ENSP00000309757.6:n.1427+568_1427+570delinsCTG | |
NM_000237.2:c.1427+568_1427+570delinsCTG | NP_000228.1:n.1427+568_1427+570delinsCTG | |
NM_000237.3:c.1427+568_1427+570delinsCTG MANE Select | NP_000228.1:n.1427+568_1427+570delinsCTG |