HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47332243dup , CM000673.2:g.47332243dup | GRCh38 |
NC_000011.9:g.47353794dup , CM000673.1:g.47353794dup | GRCh37 |
NC_000011.8:g.47310370dup | NCBI36 |
NG_007667.1:g.25461dup , LRG_386:g.25461dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.3644dup MANE Select | ENSP00000442795.1:p.Lys1216GlnfsTer26 | |
ENST00000256993.8:c.3644dup | ENSP00000256993.5:p.Lys1216GlnfsTer26 | |
ENST00000399249.6:c.3644dup | ENSP00000382193.2:p.Lys1216GlnfsTer26 | |
ENST00000545968.5:c.3644dup | ENSP00000442795.1:p.Lys1216GlnfsTer26 | |
NM_000256.3:c.3644dup , LRG_386t1:c.3644dup MANE Select | NP_000247.2:p.Lys1216GlnfsTer26 | |
XM_011520117.1:c.3626dup | XP_011518419.1:p.Lys1210GlnfsTer26 | |
XM_011520118.1:c.3563dup | XP_011518420.1:p.Lys1189GlnfsTer26 |