Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866596_102866663del , CM000674.2:g.102866596_102866663del | GRCh38 |
| NC_000012.11:g.103260374_103260441del , CM000674.1:g.103260374_103260441del | GRCh37 |
| NC_000012.10:g.101784504_101784571del | NCBI36 |
| NG_008690.1:g.55941_56008del | |
| NG_008690.2:g.96749_96816del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.443_509+1del | ||
| ENST00000307000.7:c.428_494+1del | ||
| ENST00000549111.5:n.539_605+1del | ||
| ENST00000551988.5:n.530+10800_530+10867del | ||
| ENST00000553106.5:c.443_509+1del | ||
| NM_000277.1:c.443_509+1del | ||
| XM_011538422.1:c.443_509+1del | ||
| NM_000277.2:c.443_509+1del | ||
| NM_001354304.1:c.443_509+1del | ||
| XM_017019370.2:c.443_509+1del | ||
| NM_000277.3:c.443_509+1del | ||
| NM_001354304.2:c.443_509+1del |