Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003436del , CM000679.2:g.8003436del | GRCh38 |
| NC_000017.10:g.7906754del , CM000679.1:g.7906754del | GRCh37 |
| NC_000017.9:g.7847479del | NCBI36 |
| NG_009092.1:g.5767del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.389del MANE Select | NP_000171.1:p.Pro130LeufsTer? |
| ENST00000254854.5:c.389del MANE Select | ENSP00000254854.4:p.Pro130LeufsTer? |
| NM_000180.3:c.389del | NP_000171.1:p.Pro130LeufsTer? |
| ENST00000254854.4:c.389del | ENSP00000254854.4:p.Pro130LeufsTer? |
| XM_011523816.1:c.389del | XP_011522118.1:p.Pro130LeufsTer? |