Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11310006_11310007del , CM000678.2:g.11310006_11310007del | GRCh38 |
| NC_000016.9:g.11403863_11403864del , CM000678.1:g.11403863_11403864del | GRCh37 |
| NC_000016.8:g.11311364_11311365del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+60228_152+60229del | ||
| ENST00000572173.1:c.-436-2823_-436-2822del | ENSP00000461206.1:n.-436-2823_-436-2822del | |
| ENST00000573910.1:n.161-6446_161-6445del | ||
| XR_933070.1:n.733+60228_733+60229del | ||
| XR_933070.3:n.876+60228_876+60229del |