Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854491_102855291del , CM000674.2:g.102854491_102855291del | GRCh38 |
| NC_000012.11:g.103248269_103249069del , CM000674.1:g.103248269_103249069del | GRCh37 |
| NC_000012.10:g.101772399_101773199del | NCBI36 |
| NG_008690.2:g.108122_108922del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.553_706+647del | |
| NM_000277.3:c.553_706+647del | |
| NM_001354304.1:c.553_706+647del | |
| NM_001354304.2:c.553_706+647del | |
| ENST00000307000.7:c.538_691+647del | |
| ENST00000553106.5:c.553_706+647del | |
| ENST00000553106.6:c.553_706+647del | |
| XM_011538422.1:c.553_706+647del | |
| XM_017019370.2:c.553_*296del |