Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865713_102871066del , CM000674.2:g.102865713_102871066del | GRCh38 |
| NC_000012.11:g.103259491_103264844del , CM000674.1:g.103259491_103264844del | GRCh37 |
| NC_000012.10:g.101783621_101788974del | NCBI36 |
| NG_008690.1:g.51537_56890del | |
| NG_008690.2:g.92345_97698del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.442-4403_509+883del | ||
| ENST00000307000.7:c.427-4403_494+883del | ||
| ENST00000549111.5:n.538-4403_605+883del | ||
| ENST00000551988.5:n.530+6396_531-10381del | ||
| ENST00000553106.5:c.442-4403_509+883del | ||
| NM_000277.1:c.442-4403_509+883del | ||
| XM_011538422.1:c.442-4403_509+883del | ||
| NM_000277.2:c.442-4403_509+883del | ||
| NM_001354304.1:c.442-4403_509+883del | ||
| XM_017019370.2:c.442-4403_509+883del | ||
| NM_000277.3:c.442-4403_509+883del | ||
| NM_001354304.2:c.442-4403_509+883del |