Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411094dup , CM000677.2:g.48411094dup | GRCh38 |
| NC_000015.9:g.48703291dup , CM000677.1:g.48703291dup | GRCh37 |
| NC_000015.8:g.46490583dup | NCBI36 |
| NG_008805.2:g.239699dup , LRG_778:g.239699dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1324dup | ENSP00000453958.2:n.*1324dup | |
| ENST00000682158.1:n.1897dup | ||
| ENST00000682170.1:n.2697dup | ||
| ENST00000682767.1:n.1813dup | ||
| ENST00000316623.10:c.8516dup MANE Select | ENSP00000325527.5:p.Lys2840GlufsTer4 | |
| ENST00000316623.9:c.8516dup | ENSP00000325527.5:p.Lys2840GlufsTer4 | |
| ENST00000559133.5:c.3885dup | ||
| NM_000138.4:c.8516dup , LRG_778t1:c.8516dup | NP_000129.3:p.Lys2840GlufsTer4 | |
| NM_000138.5:c.8516dup MANE Select | NP_000129.3:p.Lys2840GlufsTer4 |