Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41741100del , CM000683.2:g.41741100del | GRCh38 |
| NC_000021.8:g.43161260del , CM000683.1:g.43161260del | GRCh37 |
| NC_000021.7:g.42034329del | NCBI36 |
| NG_032113.1:g.30992del | |
| NG_032113.2:g.30992del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2095del MANE Select | ENSP00000332454.3:p.Arg699GlyfsTer4 | |
| ENST00000332512.7:c.2095del | ENSP00000332454.3:p.Arg699GlyfsTer4 | |
| ENST00000352483.3:c.2239del | ENSP00000330161.2:p.Arg747GlyfsTer4 | |
| NM_020639.2:c.2095del | NP_065690.2:p.Arg699GlyfsTer4 | |
| NM_020639.3:c.2095del MANE Select | NP_065690.2:p.Arg699GlyfsTer4 |