Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852812_102852819del , CM000674.2:g.102852812_102852819del | GRCh38 |
| NC_000012.11:g.103246590_103246597del , CM000674.1:g.103246590_103246597del | GRCh37 |
| NC_000012.10:g.101770720_101770727del | NCBI36 |
| NG_008690.1:g.69784_69791del | |
| NG_008690.2:g.110592_110599del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.1:c.838_842+3del | |
| NM_000277.2:c.838_842+3del | |
| NM_000277.3:c.838_842+3del | |
| NM_001354304.1:c.838_842+3del | |
| NM_001354304.2:c.838_842+3del | |
| ENST00000307000.7:c.823_827+3del | |
| ENST00000549247.6:n.597_601+3del | |
| ENST00000553106.5:c.838_842+3del | |
| ENST00000553106.6:c.838_842+3del | |
| XM_011538422.1:c.838_842+3del |