Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288345_44288346del , CM000683.2:g.44288345_44288346del | GRCh38 |
| NC_000021.8:g.45708228_45708229del , CM000683.1:g.45708228_45708229del | GRCh37 |
| NC_000021.7:g.44532656_44532657del | NCBI36 |
| NG_009556.1:g.7466_7467del , LRG_18:g.7466_7467del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539_540del | ||
| ENST00000291582.5:c.539_540del | ||
| ENST00000527919.5:n.1083_1084del | ||
| ENST00000530812.5:n.1091_1092del | ||
| NM_000383.3:c.539_540del | ||
| XM_011529551.1:c.539_540del | ||
| NM_000383.4:c.539_540del |