Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403490del , CM000685.2:g.38403490del | GRCh38 |
| NC_000023.10:g.38262743del , CM000685.1:g.38262743del | GRCh37 |
| NC_000023.9:g.38147687del | NCBI36 |
| NG_008471.1:g.56008del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.541-128del MANE Select | ENSP00000039007.4:n.541-128del | |
| ENST00000643344.1:c.*291-128del | ENSP00000496606.1:n.*291-128del | |
| ENST00000039007.4:c.541-128del | ENSP00000039007.4:n.541-128del | |
| ENST00000465127.1:c.172-262631del | ENSP00000417050.1:n.172-262631del | |
| ENST00000488812.1:n.578-128del | ||
| NM_000531.5:c.541-128del | NP_000522.3:n.541-128del | |
| XM_017029556.1:c.541-128del | XP_016885045.1:n.541-128del | |
| NM_000531.6:c.541-128del MANE Select | NP_000522.3:n.541-128del |