Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854490_102855289del , CM000674.2:g.102854490_102855289del | GRCh38 |
| NC_000012.11:g.103248268_103249067del , CM000674.1:g.103248268_103249067del | GRCh37 |
| NC_000012.10:g.101772398_101773197del | NCBI36 |
| NG_008690.2:g.108122_108921del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.553_706+646del | |
| NM_000277.3:c.553_706+646del | |
| NM_001354304.1:c.553_706+646del | |
| NM_001354304.2:c.553_706+646del | |
| ENST00000307000.7:c.538_691+646del | |
| ENST00000553106.5:c.553_706+646del | |
| ENST00000553106.6:c.553_706+646del | |
| XM_011538422.1:c.553_706+646del | |
| XM_017019370.2:c.553_*295del |