Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982777_99982782del , CM000675.2:g.99982777_99982782del | GRCh38 |
| NC_000013.10:g.100635031_100635036del , CM000675.1:g.100635031_100635036del | GRCh37 |
| NC_000013.9:g.99433032_99433037del | NCBI36 |
| NG_007085.2:g.5713_5718del | |
| NG_007085.3:g.6022_6027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.713_718del MANE Select | ENSP00000365514.3:p.His238_His239del | |
| ENST00000376335.7:c.713_718del | ENSP00000365514.3:p.His238_His239del | |
| ENST00000620342.1:c.710_715del | ENSP00000481510.1:p.His237_His238del | |
| NM_007129.3:c.713_718del | NP_009060.2:p.His238_His239del | |
| XM_011521110.1:c.713_718del | XP_011519412.1:p.His238_His239del | |
| NM_007129.4:c.713_718del | NP_009060.2:p.His238_His239del | |
| NM_007129.5:c.713_718del MANE Select | NP_009060.2:p.His238_His239del |