Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68684996_68685041del , CM000673.2:g.68684996_68685041del | GRCh38 |
| NC_000011.9:g.68452464_68452509del , CM000673.1:g.68452464_68452509del | GRCh37 |
| NC_000011.8:g.68209040_68209085del | NCBI36 |
| NG_052785.1:g.5522_5567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265643.4:c.73_81+37del | ||
| ENST00000265643.3:c.73_81+37del | ||
| NM_015973.3:c.73_81+37del | ||
| NM_015973.4:c.73_81+37del | ||
| XR_001748281.1:n.230+2801_230+2846del | ||
| NM_015973.5:c.73_81+37del |