HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840487dup , CM000677.2:g.84840487dup | GRCh38 |
NC_000015.9:g.85383718dup , CM000677.1:g.85383718dup | GRCh37 |
NC_000015.8:g.83184722dup | NCBI36 |
NG_054748.1:g.28857dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1208dup MANE Select | ENSP00000258888.6:p.Gly404TrpfsTer? | |
ENST00000258888.5:c.1814dup | ENSP00000258888.5:p.Gly606TrpfsTer? | |
NM_020778.4:c.1814dup | NP_065829.3:p.Gly606TrpfsTer? | |
NM_020778.5:c.1208dup MANE Select | NP_065829.4:p.Gly404TrpfsTer? |