ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1775067del , CM000679.2:g.1775067del | GRCh38 |
| NC_000017.10:g.1678361del , CM000679.1:g.1678361del | GRCh37 |
| NC_000017.9:g.1625111del | NCBI36 |
| NG_028180.1:g.18103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.653del MANE Select | ENSP00000254722.4:p.Val218GlufsTer22 | |
| ENST00000254722.8:c.653del | ENSP00000254722.4:p.Val218GlufsTer22 | |
| ENST00000572048.1:c.92del | ENSP00000458484.1:p.Val31GlufsTer22 | |
| ENST00000573763.1:c.47del | ENSP00000461405.1:p.Val16GlufsTer22 | |
| ENST00000576406.5:c.92del | ENSP00000461214.1:p.Val31GlufsTer22 | |
| NM_002615.5:c.653del | NP_002606.3:p.Val218GlufsTer22 | |
| NM_001329903.1:c.653del | NP_001316832.1:p.Val218GlufsTer22 | |
| NM_001329904.1:c.92del | NP_001316833.1:p.Val31GlufsTer22 | |
| NM_001329905.1:c.92del | NP_001316834.1:p.Val31GlufsTer22 | |
| NM_002615.6:c.653del | NP_002606.3:p.Val218GlufsTer22 | |
| NM_002615.7:c.653del MANE Select | NP_002606.3:p.Val218GlufsTer22 | |
| NM_001329903.2:c.653del | NP_001316832.1:p.Val218GlufsTer22 | |
| NM_001329904.2:c.92del | NP_001316833.1:p.Val31GlufsTer22 | |
| NM_001329905.2:c.92del | NP_001316834.1:p.Val31GlufsTer22 |