Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332259_47335041del , CM000673.2:g.47332259_47335041del | GRCh38 |
| NC_000011.9:g.47353810_47356592del , CM000673.1:g.47353810_47356592del | GRCh37 |
| NC_000011.8:g.47310386_47313168del | NCBI36 |
| NG_007667.1:g.22662_25444del , LRG_386:g.22662_25444del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2905+1_3628-1del | ||
| ENST00000256993.8:c.2905+1_3628-1del | ||
| ENST00000399249.6:c.2905+1_3628-1del | ||
| ENST00000545968.5:c.2905+1_3628-1del | ||
| NM_000256.3:c.2905+1_3628-1del , LRG_386t1:c.2905+1_3628-1del | ||
| XM_011520117.1:c.2887+1_3610-1del | ||
| XM_011520118.1:c.2824+1_3547-1del |