Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369824del , CM000685.2:g.38369824del | GRCh38 |
| NC_000023.10:g.38229077del , CM000685.1:g.38229077del | GRCh37 |
| NC_000023.9:g.38114021del | NCBI36 |
| NG_008471.1:g.22342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.245del MANE Select | ENSP00000039007.4:p.Leu82Ter | |
| ENST00000643344.1:c.245del | ENSP00000496606.1:p.Leu82Ter | |
| ENST00000039007.4:c.245del | ENSP00000039007.4:p.Leu82Ter | |
| ENST00000465127.1:c.172-296297del | ENSP00000417050.1:n.172-296297del | |
| ENST00000488812.1:n.337del | ||
| NM_000531.5:c.245del | NP_000522.3:p.Leu82Ter | |
| XM_017029556.1:c.245del | XP_016885045.1:p.Leu82Ter | |
| NM_000531.6:c.245del MANE Select | NP_000522.3:p.Leu82Ter |