Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866576_102866683del , CM000674.2:g.102866576_102866683del | GRCh38 |
| NC_000012.11:g.103260354_103260461del , CM000674.1:g.103260354_103260461del | GRCh37 |
| NC_000012.10:g.101784484_101784591del | NCBI36 |
| NG_008690.1:g.55920_56027del | |
| NG_008690.2:g.96728_96835del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.1:c.442-20_509+20del | |
| NM_000277.2:c.442-20_509+20del | |
| NM_000277.3:c.442-20_509+20del | |
| NM_001354304.1:c.442-20_509+20del | |
| NM_001354304.2:c.442-20_509+20del | |
| ENST00000307000.7:c.427-20_494+20del | |
| ENST00000549111.5:n.538-20_605+20del | |
| ENST00000551988.5:n.530+10779_530+10886del | |
| ENST00000553106.5:c.442-20_509+20del | |
| ENST00000553106.6:c.442-20_509+20del | |
| XM_011538422.1:c.442-20_509+20del | |
| XM_017019370.2:c.442-20_509+20del |