Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12117864_12117865del , CM000672.2:g.12117864_12117865del | GRCh38 |
| NC_000010.10:g.12159863_12159864del , CM000672.1:g.12159863_12159864del | GRCh37 |
| NC_000010.9:g.12199869_12199870del | NCBI36 |
| NG_033248.1:g.53948_53949del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2402+109_2402+110del MANE Select | NP_061176.4:n.2402+109_2402+110del |
| ENST00000263035.9:c.2402+109_2402+110del MANE Select | ENSP00000263035.4:n.2402+109_2402+110del |
| NM_018706.6:c.2402+109_2402+110del | NP_061176.3:n.2402+109_2402+110del |
| ENST00000263035.8:c.2402+109_2402+110del | ENSP00000263035.4:n.2402+109_2402+110del |