Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851253_102856067del , CM000674.2:g.102851253_102856067del | GRCh38 |
| NC_000012.11:g.103245031_103249845del , CM000674.1:g.103245031_103249845del | GRCh37 |
| NC_000012.10:g.101769161_101773975del | NCBI36 |
| NG_008690.2:g.107344_112158del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.510-735_912+434del | ||
| ENST00000307000.7:c.495-735_897+434del | ||
| ENST00000553106.5:c.510-735_912+434del | ||
| XM_011538422.1:c.510-735_912+434del | ||
| NM_000277.2:c.510-735_912+434del | ||
| NM_001354304.1:c.510-735_912+434del | ||
| NM_000277.3:c.510-735_912+434del | ||
| NM_001354304.2:c.510-735_912+434del |