Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787280del , CM000686.2:g.2787280del | GRCh38 |
| NC_000024.9:g.2655321del , CM000686.1:g.2655321del | GRCh37 |
| NC_000024.8:g.2715321del | NCBI36 |
| NG_011751.1:g.5472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12541del | ||
| ENST00000679825.1:n.392del | ||
| ENST00000680285.1:n.320-2469del | ||
| ENST00000680845.1:n.166-200del | ||
| ENST00000681787.1:n.106+12541del | ||
| ENST00000681940.1:n.106+12541del | ||
| ENST00000383070.2:c.324del MANE Select | ENSP00000372547.1:p.Phe109SerfsTer? | |
| ENST00000383070.1:c.324del | ENSP00000372547.1:p.Phe109SerfsTer? | |
| NM_003140.2:c.324del | NP_003131.1:p.Phe109SerfsTer? | |
| NM_003140.3:c.324del MANE Select | NP_003131.1:p.Phe109SerfsTer? |