HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117042_19117059dup , CM000669.2:g.19117042_19117059dup | GRCh38 |
NC_000007.13:g.19156665_19156682dup , CM000669.1:g.19156665_19156682dup | GRCh37 |
NC_000007.12:g.19123190_19123207dup | NCBI36 |
NG_008114.1:g.5616_5633dup | |
NG_008114.2:g.5616_5633dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.265_282dup MANE Select | ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlySerSer | |
ENST00000242261.5:c.265_282dup | ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlySerSer | |
ENST00000354571.5:c.62_79dup | ||
NM_000474.3:c.265_282dup | NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlySerSer | |
XM_011515496.1:c.265_282dup | XP_011513798.1:p.Ser94_Ser95insGlyGlyGlyGlySerSer | |
NR_149001.1:n.616_633dup | ||
NM_000474.4:c.265_282dup MANE Select | NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlySerSer | |
NR_149001.2:n.580_597dup |