Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533202del , CM000681.2:g.7533202del | GRCh38 |
| NC_000019.9:g.7598088del , CM000681.1:g.7598088del | GRCh37 |
| NC_000019.8:g.7504088del | NCBI36 |
| NG_013374.1:g.4051del | |
| NG_015806.1:g.15593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1576-321del MANE Select | ENSP00000264079.5:n.1576-321del | |
| ENST00000264079.10:c.1576-321del | ENSP00000264079.5:n.1576-321del | |
| ENST00000394321.9:n.1891-321del | ||
| ENST00000599334.1:c.304-321del | ||
| NM_020533.2:c.1576-321del | NP_065394.1:n.1576-321del | |
| NM_020533.3:c.1576-321del MANE Select | NP_065394.1:n.1576-321del |