Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289802dup , CM000683.2:g.44289802dup | GRCh38 |
| NC_000021.8:g.45709685dup , CM000683.1:g.45709685dup | GRCh37 |
| NC_000021.7:g.44534113dup | NCBI36 |
| NG_009556.1:g.8923dup , LRG_18:g.8923dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.798dup MANE Select | NP_000374.1:p.Gly267ArgfsTer4 |
| ENST00000291582.6:c.798dup MANE Select | ENSP00000291582.5:p.Gly267ArgfsTer4 |
| NM_000383.3:c.798dup | NP_000374.1:p.Gly267ArgfsTer4 |
| ENST00000291582.5:c.798dup | ENSP00000291582.5:p.Gly267ArgfsTer4 |
| ENST00000527919.5:n.1531dup | |
| ENST00000530812.5:n.2548dup | |
| XM_011529551.1:c.798dup | XP_011527853.1:p.Gly267ArgfsTer4 |