HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038094_52038095insCCAG , CM000666.2:g.52038094_52038095insCCAG | GRCh38 |
NC_000004.11:g.52904260_52904261insCCAG , CM000666.1:g.52904260_52904261insCCAG | GRCh37 |
NC_000004.10:g.52599017_52599018insCCAG | NCBI36 |
NG_008891.1:g.5225_5226insCTGG , LRG_204:g.5225_5226insCTGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+132_33+133insCTGG MANE Select | ENSP00000370839.6:n.33+132_33+133insCTGG | |
ENST00000381431.9:c.33+132_33+133insCTGG | ENSP00000370839.5:n.33+132_33+133insCTGG | |
ENST00000506357.5:c.19+132_19+133insCTGG | ||
NM_000232.4:c.33+132_33+133insCTGG , LRG_204t1:c.33+132_33+133insCTGG | NP_000223.1:n.33+132_33+133insCTGG | |
XM_011534403.1:c.33+132_33+133insCTGG | XP_011532705.1:n.33+132_33+133insCTGG | |
NM_000232.5:c.33+132_33+133insCTGG MANE Select | NP_000223.1:n.33+132_33+133insCTGG |