Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411870del , CM000685.2:g.38411870del | GRCh38 |
| NC_000023.10:g.38271123del , CM000685.1:g.38271123del | GRCh37 |
| NC_000023.9:g.38156067del | NCBI36 |
| NG_008471.1:g.64388del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.876del MANE Select | NP_000522.3:p.Val293LeufsTer? |
| ENST00000039007.5:c.876del MANE Select | ENSP00000039007.4:p.Val293LeufsTer? |
| NM_000531.5:c.876del | NP_000522.3:p.Val293LeufsTer? |
| ENST00000039007.4:c.876del | ENSP00000039007.4:p.Val293LeufsTer? |
| ENST00000465127.1:c.172-254251del | ENSP00000417050.1:n.172-254251del |
| ENST00000643344.1:c.*626del | ENSP00000496606.1:n.*626del |
| XM_017029556.1:c.*9del | XP_016885045.1:n.*9del |