Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722285del , CM000668.2:g.42722285del | GRCh38 |
| NC_000006.11:g.42690023del , CM000668.1:g.42690023del | GRCh37 |
| NC_000006.10:g.42798001del | NCBI36 |
| NG_009176.1:g.5338del | |
| NG_009176.2:g.5338del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.52del MANE Select | ENSP00000230381.5:p.Gln18LysfsTer6 | |
| ENST00000230381.6:c.52del | ENSP00000230381.5:p.Gln18LysfsTer6 | |
| NM_000322.4:c.52del | NP_000313.2:p.Gln18LysfsTer6 | |
| XR_427834.2:n.707del | ||
| XR_926295.1:n.707del | ||
| XR_427834.4:n.757del | ||
| XR_926295.3:n.757del | ||
| NM_000322.5:c.52del MANE Select | NP_000313.2:p.Gln18LysfsTer6 |