Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521840del , CM000681.2:g.33521840del | GRCh38 |
| NC_000019.9:g.34012746del , CM000681.1:g.34012746del | GRCh37 |
| NC_000019.8:g.38704586del | NCBI36 |
| NG_013358.1:g.5056del | |
| NG_013358.2:g.5056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000285.3:c.-78del | NP_000276.2:n.-78del | |
| NM_001166056.1:c.-78del | NP_001159528.1:n.-78del | |
| NM_001166057.1:c.-78del | NP_001159529.1:n.-78del |