Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787498_2787501del , CM000686.2:g.2787498_2787501del | GRCh38 |
| NC_000024.9:g.2655539_2655542del , CM000686.1:g.2655539_2655542del | GRCh37 |
| NC_000024.8:g.2715539_2715542del | NCBI36 |
| NG_011751.1:g.5251_5254del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12759_106+12762del | ||
| ENST00000679825.1:n.610_613del | ||
| ENST00000680285.1:n.320-2251_320-2248del | ||
| ENST00000680845.1:n.184_187del | ||
| ENST00000681787.1:n.106+12759_106+12762del | ||
| ENST00000681940.1:n.106+12759_106+12762del | ||
| ENST00000383070.2:c.103_106del MANE Select | ENSP00000372547.1:p.Leu35AlafsTer25 | |
| ENST00000383070.1:c.103_106del | ENSP00000372547.1:p.Leu35AlafsTer25 | |
| NM_003140.2:c.103_106del | NP_003131.1:p.Leu35AlafsTer25 | |
| NM_003140.3:c.103_106del MANE Select | NP_003131.1:p.Leu35AlafsTer25 |