HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038076_52038077insGCC , CM000666.2:g.52038076_52038077insGCC | GRCh38 |
NC_000004.11:g.52904242_52904243insGCC , CM000666.1:g.52904242_52904243insGCC | GRCh37 |
NC_000004.10:g.52598999_52599000insGCC | NCBI36 |
NG_008891.1:g.5243_5244insGGC , LRG_204:g.5243_5244insGGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+150_33+151insGGC MANE Select | ENSP00000370839.6:n.33+150_33+151insGGC | |
ENST00000381431.9:c.33+150_33+151insGGC | ENSP00000370839.5:n.33+150_33+151insGGC | |
ENST00000506357.5:c.19+150_19+151insGGC | ||
NM_000232.4:c.33+150_33+151insGGC , LRG_204t1:c.33+150_33+151insGGC | NP_000223.1:n.33+150_33+151insGGC | |
XM_011534403.1:c.33+150_33+151insGGC | XP_011532705.1:n.33+150_33+151insGGC | |
NM_000232.5:c.33+150_33+151insGGC MANE Select | NP_000223.1:n.33+150_33+151insGGC |