Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787324del , CM000686.2:g.2787324del | GRCh38 |
| NC_000024.9:g.2655365del , CM000686.1:g.2655365del | GRCh37 |
| NC_000024.8:g.2715365del | NCBI36 |
| NG_011751.1:g.5428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12585del | ||
| ENST00000679825.1:n.436del | ||
| ENST00000680285.1:n.320-2425del | ||
| ENST00000680845.1:n.166-156del | ||
| ENST00000681787.1:n.106+12585del | ||
| ENST00000681940.1:n.106+12585del | ||
| ENST00000383070.2:c.280del MANE Select | ENSP00000372547.1:p.Leu94TrpfsTer? | |
| ENST00000383070.1:c.280del | ENSP00000372547.1:p.Leu94TrpfsTer? | |
| NM_003140.2:c.280del | NP_003131.1:p.Leu94TrpfsTer? | |
| NM_003140.3:c.280del MANE Select | NP_003131.1:p.Leu94TrpfsTer? |