Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320459dup , CM000667.2:g.159320459dup | GRCh38 |
| NC_000005.9:g.158747467dup , CM000667.1:g.158747467dup | GRCh37 |
| NC_000005.8:g.158680045dup | NCBI36 |
| NG_009618.1:g.15018dup , LRG_71:g.15018dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-84dup | ENSP00000512849.1:n.-84dup | |
| ENST00000696751.1:c.*42dup | ENSP00000512850.1:n.*42dup | |
| ENST00000231228.3:c.547dup MANE Select | ENSP00000231228.2:p.Asp183GlyfsTer6 | |
| ENST00000231228.2:c.547dup | ENSP00000231228.2:p.Asp183GlyfsTer6 | |
| NM_002187.2:c.547dup , LRG_71t1:c.547dup | NP_002178.2:p.Asp183GlyfsTer6 | |
| XR_001742945.1:n.10dup | ||
| NM_002187.3:c.547dup MANE Select | NP_002178.2:p.Asp183GlyfsTer6 |