Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341136_47341138del , CM000673.2:g.47341136_47341138del | GRCh38 |
| NC_000011.9:g.47362687_47362689del , CM000673.1:g.47362687_47362689del | GRCh37 |
| NC_000011.8:g.47319263_47319265del | NCBI36 |
| NG_007667.1:g.16566_16568del , LRG_386:g.16566_16568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1897+1_1897+3del | ||
| ENST00000256993.8:c.1897+1_1897+3del | ||
| ENST00000399249.6:c.1897+1_1897+3del | ||
| ENST00000544791.1:c.1897+1_1897+3del | ||
| ENST00000545968.5:c.1897+1_1897+3del | ||
| NM_000256.3:c.1897+1_1897+3del , LRG_386t1:c.1897+1_1897+3del | ||
| XM_011520117.1:c.1879+1_1879+3del | ||
| XM_011520118.1:c.1897+1_1897+3del |