Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48929253del , CM000677.2:g.48929253del | GRCh38 |
| NC_000015.9:g.49221450del , CM000677.1:g.49221450del | GRCh37 |
| NC_000015.8:g.47008742del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332408.9:c.586-4302del MANE Select | ENSP00000329668.4:n.586-4302del | |
| ENST00000332408.8:c.586-4302del | ENSP00000329668.4:n.586-4302del | |
| NM_203349.3:c.586-4302del | NP_976224.3:n.586-4302del | |
| XM_005254375.2:c.37-4302del | XP_005254432.1:n.37-4302del | |
| XM_011521552.1:c.-3-4302del | XP_011519854.1:n.-3-4302del | |
| XM_005254375.3:c.37-4302del | XP_005254432.1:n.37-4302del | |
| NM_203349.4:c.586-4302del MANE Select | NP_976224.3:n.586-4302del |