Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981468_149981470del , CM000667.2:g.149981468_149981470del | GRCh38 |
| NC_000005.9:g.149361031_149361033del , CM000667.1:g.149361031_149361033del | GRCh37 |
| NC_000005.8:g.149341224_149341226del | NCBI36 |
| NG_007147.2:g.22586_22588del , LRG_684:g.22586_22588del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1875_1877del MANE Select | ENSP00000286298.4:p.Val626del | |
| ENST00000286298.4:c.1875_1877del | ENSP00000286298.4:p.Val626del | |
| ENST00000503336.1:c.372+3117_372+3119del | ENSP00000426053.1:n.372+3117_372+3119del | |
| NM_000112.3:c.1875_1877del , LRG_684t1:c.1875_1877del | NP_000103.2:p.Val626del | |
| XM_017009191.2:c.1875_1877del | XP_016864680.1:p.Val626del | |
| NM_000112.4:c.1875_1877del MANE Select | NP_000103.2:p.Val626del |