Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416062del , CM000667.2:g.96416062del | GRCh38 |
| NC_000005.9:g.95751766del , CM000667.1:g.95751766del | GRCh37 |
| NC_000005.8:g.95777522del | NCBI36 |
| NG_021161.1:g.22221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.681del MANE Select | ENSP00000308024.2:p.Gly228GlufsTer11 | |
| ENST00000311106.7:c.681del | ENSP00000308024.2:p.Gly228GlufsTer11 | |
| ENST00000508626.5:c.540del | ENSP00000421600.1:p.Gly181GlufsTer11 | |
| NM_000439.4:c.681del | NP_000430.3:p.Gly228GlufsTer11 | |
| NM_001177875.1:c.540del | NP_001171346.1:p.Gly181GlufsTer11 | |
| NR_130776.1:n.354+36410del | ||
| NM_000439.5:c.681del MANE Select | NP_000430.3:p.Gly228GlufsTer11 | |
| NM_001177875.2:c.540del | NP_001171346.1:p.Gly181GlufsTer11 |