Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70644189del , CM000666.2:g.70644189del | GRCh38 |
| NC_000004.11:g.71509906del , CM000666.1:g.71509906del | GRCh37 |
| NC_000004.10:g.71728770del | NCBI36 |
| NG_013024.1:g.20446del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031889.3:c.2763del MANE Select | NP_114095.2:p.Asp921GlufsTer? |
| ENST00000396073.4:c.2763del MANE Select | ENSP00000379383.4:p.Asp921GlufsTer? |
| NM_001368133.1:c.2109del | NP_001355062.1:p.Asp703GlufsTer? |
| NM_031889.2:c.2763del | NP_114095.2:p.Asp921GlufsTer? |
| ENST00000396073.3:c.2763del | ENSP00000379383.3:p.Asp921GlufsTer? |
| ENST00000472903.5:n.99+6346del | |
| XM_006714056.2:c.2763del | XP_006714119.1:p.Asp921GlufsTer? |
| XM_006714056.4:c.2763del | XP_006714119.1:p.Asp921GlufsTer? |