HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733317dup , CM000684.2:g.37733317dup | GRCh38 |
NC_000022.10:g.38129324dup , CM000684.1:g.38129324dup | GRCh37 |
NC_000022.9:g.36459270dup | NCBI36 |
NG_012857.1:g.41330dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3967dup MANE Select | ENSP00000496394.1:p.Ala1323GlyfsTer? | |
ENST00000344404.10:c.*3450dup | ENSP00000340312.6:n.*3450dup | |
ENST00000406386.7:c.3967dup | ENSP00000384312.3:p.Ala1323GlyfsTer? | |
NM_001039141.2:c.3967dup | NP_001034230.1:p.Ala1323GlyfsTer? | |
XM_011530646.1:c.512-2954dup | XP_011528948.1:n.512-2954dup | |
NM_001039141.3:c.3967dup MANE Select | NP_001034230.1:p.Ala1323GlyfsTer? |