Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982780_99982782dup , CM000675.2:g.99982780_99982782dup | GRCh38 |
| NC_000013.10:g.100635034_100635036dup , CM000675.1:g.100635034_100635036dup | GRCh37 |
| NC_000013.9:g.99433035_99433037dup | NCBI36 |
| NG_007085.2:g.5716_5718dup | |
| NG_007085.3:g.6025_6027dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.716_718dup MANE Select | ENSP00000365514.3:p.His239_Pro240insHis | |
| ENST00000376335.7:c.716_718dup | ENSP00000365514.3:p.His239_Pro240insHis | |
| ENST00000620342.1:c.713_715dup | ENSP00000481510.1:p.His238_Pro239insHis | |
| NM_007129.3:c.716_718dup | NP_009060.2:p.His239_Pro240insHis | |
| XM_011521110.1:c.716_718dup | XP_011519412.1:p.His239_Pro240insHis | |
| NM_007129.4:c.716_718dup | NP_009060.2:p.His239_Pro240insHis | |
| NM_007129.5:c.716_718dup MANE Select | NP_009060.2:p.His239_Pro240insHis |