Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854491_102855289del , CM000674.2:g.102854491_102855289del | GRCh38 |
| NC_000012.11:g.103248269_103249067del , CM000674.1:g.103248269_103249067del | GRCh37 |
| NC_000012.10:g.101772399_101773197del | NCBI36 |
| NG_008690.2:g.108123_108921del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.554_706+646del | |
| NM_000277.3:c.554_706+646del | |
| NM_001354304.1:c.554_706+646del | |
| NM_001354304.2:c.554_706+646del | |
| ENST00000307000.7:c.539_691+646del | |
| ENST00000553106.5:c.554_706+646del | |
| ENST00000553106.6:c.554_706+646del | |
| XM_011538422.1:c.554_706+646del | |
| XM_017019370.2:c.554_*295del |