Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732022_8732102del , CM000685.2:g.8732022_8732102del | GRCh38 |
| NC_000023.10:g.8700063_8700143del , CM000685.1:g.8700063_8700143del | GRCh37 |
| NC_000023.9:g.8660063_8660143del | NCBI36 |
| NG_007088.1:g.5095_5175del | |
| NG_007088.2:g.5095_5175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-56_25del | ||
| ENST00000262648.7:c.-56_25del | ||
| ENST00000619786.1:c.-56_25del | ||
| NM_000216.2:c.-56_25del | ||
| XM_005274501.3:c.-56_25del | ||
| NM_000216.3:c.-56_25del | ||
| XM_005274501.4:c.-56_25del | ||
| NM_000216.4:c.-56_25del |