Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108440192_108440207del , CM000685.2:g.108440192_108440207del | GRCh38 |
| NC_000023.10:g.107683422_107683437del , CM000685.1:g.107683422_107683437del | GRCh37 |
| NC_000023.9:g.107570078_107570093del | NCBI36 |
| NG_011977.1:g.5269_5284del | |
| NG_012059.2:g.4269_4284del | |
| NG_011977.2:g.5269_5284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.67_81+1del | ||
| ENST00000361603.7:c.67_81+1del | ||
| ENST00000642185.1:c.67_81+1del | ||
| ENST00000328300.10:c.67_81+1del | ||
| ENST00000361603.6:c.67_81+1del | ||
| ENST00000470339.1:n.251_265+1del | ||
| ENST00000477429.1:n.349_363+1del | ||
| NM_000495.4:c.67_81+1del | ||
| NM_033380.2:c.67_81+1del | ||
| XM_005262070.2:c.67_81+1del | ||
| XM_005262072.3:c.67_81+1del | ||
| XM_006724616.2:c.67_81+1del | ||
| XM_011530850.1:c.67_81+1del | ||
| NM_000495.5:c.67_81+1del | ||
| NM_033380.3:c.67_81+1del |