Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015664_25015666del , CM000685.2:g.25015664_25015666del | GRCh38 |
| NC_000023.10:g.25033781_25033783del , CM000685.1:g.25033781_25033783del | GRCh37 |
| NC_000023.9:g.24943702_24943704del | NCBI36 |
| NG_008281.1:g.5288_5290del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.77_79del MANE Select | NP_620689.1:p.Ser26del |
| ENST00000379044.5:c.77_79del MANE Select | ENSP00000368332.4:p.Ser26del |
| NM_139058.2:c.77_79del | NP_620689.1:p.Ser26del |
| ENST00000379044.4:c.77_79del | ENSP00000368332.4:p.Ser26del |
| ENST00000636609.1:n.36-16_36-14del | |
| ENST00000637394.1:n.68-16_68-14del |