Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226904_5226947del , CM000673.2:g.5226904_5226947del | GRCh38 |
| NC_000011.9:g.5248134_5248177del , CM000673.1:g.5248134_5248177del | GRCh37 |
| NC_000011.8:g.5204710_5204753del | NCBI36 |
| NG_000007.3:g.70670_70713del | |
| NG_059281.1:g.5126_5169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.76_92+27del | ||
| ENST00000335295.4:c.76_92+27del | ||
| ENST00000380315.2:c.76_92+27del | ||
| ENST00000485743.1:n.127_143+27del | ||
| ENST00000633227.1:c.76_76+43del | ||
| NM_000518.4:c.76_92+27del | ||
| NM_000518.5:c.76_92+27del |