Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228673_112228674del , CM000673.2:g.112228673_112228674del | GRCh38 |
| NC_000011.9:g.112099396_112099397del , CM000673.1:g.112099396_112099397del | GRCh37 |
| NC_000011.8:g.111604606_111604607del | NCBI36 |
| NG_008743.1:g.7309_7310del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.163_163+1del | ||
| ENST00000280362.7:c.163_163+1del | ||
| ENST00000524931.1:c.-42_-42+1del | ||
| ENST00000525645.1:n.238_239del | ||
| ENST00000525803.1:c.163_163+1del | ||
| ENST00000528679.5:c.163_163+1del | ||
| ENST00000531673.5:c.163_163+1del | ||
| NM_000317.2:c.163_163+1del | ||
| NM_000317.3:c.163_163+1del |