Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369878_38369882del , CM000685.2:g.38369878_38369882del | GRCh38 |
| NC_000023.10:g.38229131_38229135del , CM000685.1:g.38229131_38229135del | GRCh37 |
| NC_000023.9:g.38114075_38114079del | NCBI36 |
| NG_008471.1:g.22396_22400del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.5:c.298+1_298+5del | |
| NM_000531.6:c.298+1_298+5del | |
| ENST00000039007.4:c.298+1_298+5del | |
| ENST00000039007.5:c.298+1_298+5del | |
| ENST00000465127.1:c.172-296243_172-296239del | ENSP00000417050.1:n.172-296243_172-296239del |
| ENST00000488812.1:n.353+38_353+42del | |
| ENST00000643344.1:c.298+1_298+5del | |
| XM_017029556.1:c.298+1_298+5del |