Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381419del , CM000685.2:g.38381419del | GRCh38 |
| NC_000023.10:g.38240672del , CM000685.1:g.38240672del | GRCh37 |
| NC_000023.9:g.38125616del | NCBI36 |
| NG_008471.1:g.33937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.376del MANE Select | ENSP00000039007.4:p.Asp126ThrfsTer? | |
| ENST00000643344.1:c.*126del | ENSP00000496606.1:n.*126del | |
| ENST00000039007.4:c.376del | ENSP00000039007.4:p.Asp126ThrfsTer? | |
| ENST00000465127.1:c.172-284702del | ENSP00000417050.1:n.172-284702del | |
| ENST00000488812.1:n.413del | ||
| NM_000531.5:c.376del | NP_000522.3:p.Asp126ThrfsTer? | |
| XM_017029556.1:c.376del | XP_016885045.1:p.Asp126ThrfsTer? | |
| NM_000531.6:c.376del MANE Select | NP_000522.3:p.Asp126ThrfsTer? |