HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333705dup , CM000673.2:g.47333705dup | GRCh38 |
NC_000011.9:g.47355256dup , CM000673.1:g.47355256dup | GRCh37 |
NC_000011.8:g.47311832dup | NCBI36 |
NG_007667.1:g.23999dup , LRG_386:g.23999dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.3043dup MANE Select | ENSP00000442795.1:p.Ala1015GlyfsTer? | |
ENST00000256993.8:c.3043dup | ENSP00000256993.5:p.Ala1015GlyfsTer? | |
ENST00000399249.6:c.3043dup | ENSP00000382193.2:p.Ala1015GlyfsTer? | |
ENST00000545968.5:c.3043dup | ENSP00000442795.1:p.Ala1015GlyfsTer? | |
NM_000256.3:c.3043dup , LRG_386t1:c.3043dup MANE Select | NP_000247.2:p.Ala1015GlyfsTer? | |
XM_011520117.1:c.3025dup | XP_011518419.1:p.Ala1009GlyfsTer? | |
XM_011520118.1:c.2962dup | XP_011518420.1:p.Ala988GlyfsTer? |