Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226930_5227071del , CM000673.2:g.5226930_5227071del | GRCh38 |
| NC_000011.9:g.5248160_5248301del , CM000673.1:g.5248160_5248301del | GRCh37 |
| NC_000011.8:g.5204736_5204877del | NCBI36 |
| NG_000007.3:g.70545_70686del | |
| NG_059281.1:g.5001_5142del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-50_92del | ||
| ENST00000335295.4:c.-50_92del | ||
| ENST00000380315.2:c.-18-32_92del | ||
| ENST00000485743.1:n.2_143del | ||
| ENST00000633227.1:c.-50_76+16del | ||
| NM_000518.4:c.-50_92del | ||
| NM_000518.5:c.-50_92del |