Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11310033_11310035del , CM000678.2:g.11310033_11310035del | GRCh38 |
| NC_000016.9:g.11403890_11403892del , CM000678.1:g.11403890_11403892del | GRCh37 |
| NC_000016.8:g.11311391_11311393del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+60255_152+60257del | ||
| ENST00000572173.1:c.-436-2796_-436-2794del | ENSP00000461206.1:n.-436-2796_-436-2794del | |
| ENST00000573910.1:n.161-6419_161-6417del | ||
| XR_933070.1:n.733+60255_733+60257del | ||
| XR_933070.3:n.876+60255_876+60257del |