Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811773_192811785del , CM000663.2:g.192811773_192811785del | GRCh38 |
| NC_000001.10:g.192780903_192780915del , CM000663.1:g.192780903_192780915del | GRCh37 |
| NC_000001.9:g.191047526_191047538del | NCBI36 |
| NG_012800.1:g.7735_7747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*177_*189del MANE Select | ENSP00000235382.5:n.*177_*189del | |
| ENST00000235382.6:c.*177_*189del | ENSP00000235382.5:n.*177_*189del | |
| NM_002923.3:c.*177_*189del | NP_002914.1:n.*177_*189del | |
| NM_002923.4:c.*177_*189del MANE Select | NP_002914.1:n.*177_*189del |