Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787131dup , CM000686.2:g.2787131dup | GRCh38 |
| NC_000024.9:g.2655172dup , CM000686.1:g.2655172dup | GRCh37 |
| NC_000024.8:g.2715172dup | NCBI36 |
| NG_011751.1:g.5622dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12392dup | ||
| ENST00000679825.1:n.243dup | ||
| ENST00000680285.1:n.320-2618dup | ||
| ENST00000680845.1:n.165+78dup | ||
| ENST00000681787.1:n.106+12392dup | ||
| ENST00000681940.1:n.106+12392dup | ||
| ENST00000383070.2:c.474dup MANE Select | ENSP00000372547.1:p.Leu159ThrfsTer9 | |
| ENST00000383070.1:c.474dup | ENSP00000372547.1:p.Leu159ThrfsTer9 | |
| NM_003140.2:c.474dup | NP_003131.1:p.Leu159ThrfsTer9 | |
| NM_003140.3:c.474dup MANE Select | NP_003131.1:p.Leu159ThrfsTer9 |