Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66526690_66533668del , CM000673.2:g.66526690_66533668del | GRCh38 |
| NC_000011.9:g.66294161_66301139del , CM000673.1:g.66294161_66301139del | GRCh37 |
| NC_000011.8:g.66050737_66057715del | NCBI36 |
| NG_009093.1:g.21043_28021del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526986.5:c.560-4178_*21+248del | ||
| ENST00000534073.5:c.560-6660_*21+248del | ||
| XM_005273874.3:c.560-6660_*21+248del | ||
| XM_011544894.1:c.560-6660_*21+248del | ||
| XM_011544895.1:c.560-9390_560-2412del | XP_011543197.1:n.560-9390_560-2412del | |
| XR_949860.1:n.616-6660_686+248del | ||
| NM_001348571.1:c.560-4178_*21+248del | ||
| XM_005273874.4:c.560-6660_*21+248del | ||
| XM_011544894.2:c.560-6660_*21+248del | ||
| XR_001747823.2:n.741-9390_741-2412del | ||
| XR_949860.3:n.741-6660_811+248del | ||
| NM_001348571.2:c.560-4178_*21+248del |