Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154078dup , CM000681.2:g.55154078dup | GRCh38 |
| NC_000019.9:g.55665446dup , CM000681.1:g.55665446dup | GRCh37 |
| NC_000019.8:g.60357258dup | NCBI36 |
| NG_007866.2:g.8656dup , LRG_432:g.8656dup | |
| NG_011829.2:g.162dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.502dup MANE Select | ENSP00000341838.5:p.Asp168GlyfsTer? | |
| ENST00000665070.1:c.535dup | ENSP00000499482.1:p.Asp179GlyfsTer? | |
| ENST00000344887.9:c.502dup | ENSP00000341838.5:p.Asp168GlyfsTer? | |
| ENST00000585806.5:n.501dup | ||
| ENST00000588882.1:c.427dup | ENSP00000466729.1:p.Asp143GlyfsTer? | |
| ENST00000589864.1:n.330dup | ||
| NM_000363.4:c.502dup , LRG_432t1:c.502dup | NP_000354.4:p.Asp168GlyfsTer? | |
| NM_000363.5:c.502dup MANE Select | NP_000354.4:p.Asp168GlyfsTer? |