Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226800_5226991del , CM000673.2:g.5226800_5226991del | GRCh38 |
| NC_000011.9:g.5248030_5248221del , CM000673.1:g.5248030_5248221del | GRCh37 |
| NC_000011.8:g.5204606_5204797del | NCBI36 |
| NG_000007.3:g.70627_70818del | |
| NG_059281.1:g.5083_5274del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.33_94del | ||
| ENST00000335295.4:c.33_94del | ||
| ENST00000380315.2:c.33_94del | ||
| ENST00000485743.1:n.84_145del | ||
| ENST00000633227.1:c.33_78del | ||
| NM_000518.4:c.33_94del | ||
| NM_000518.5:c.33_94del |