Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866586_102866673del , CM000674.2:g.102866586_102866673del | GRCh38 |
| NC_000012.11:g.103260364_103260451del , CM000674.1:g.103260364_103260451del | GRCh37 |
| NC_000012.10:g.101784494_101784581del | NCBI36 |
| NG_008690.1:g.55930_56017del | |
| NG_008690.2:g.96738_96825del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.1:c.442-10_509+10del | |
| NM_000277.2:c.442-10_509+10del | |
| NM_000277.3:c.442-10_509+10del | |
| NM_001354304.1:c.442-10_509+10del | |
| NM_001354304.2:c.442-10_509+10del | |
| ENST00000307000.7:c.427-10_494+10del | |
| ENST00000549111.5:n.538-10_605+10del | |
| ENST00000551988.5:n.530+10789_530+10876del | |
| ENST00000553106.5:c.442-10_509+10del | |
| ENST00000553106.6:c.442-10_509+10del | |
| XM_011538422.1:c.442-10_509+10del | |
| XM_017019370.2:c.442-10_509+10del |