Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981548_149981551del , CM000667.2:g.149981548_149981551del | GRCh38 |
| NC_000005.9:g.149361111_149361114del , CM000667.1:g.149361111_149361114del | GRCh37 |
| NC_000005.8:g.149341304_149341307del | NCBI36 |
| NG_007147.2:g.22666_22669del , LRG_684:g.22666_22669del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.1955_1958del MANE Select | NP_000103.2:p.Asp652AlafsTer7 |
| ENST00000286298.5:c.1955_1958del MANE Select | ENSP00000286298.4:p.Asp652AlafsTer7 |
| NM_000112.3:c.1955_1958del , LRG_684t1:c.1955_1958del | NP_000103.2:p.Asp652AlafsTer7 |
| ENST00000286298.4:c.1955_1958del | ENSP00000286298.4:p.Asp652AlafsTer7 |
| ENST00000503336.1:c.372+3197_372+3200del | ENSP00000426053.1:n.372+3197_372+3200del |
| XM_017009191.2:c.1955_1958del | XP_016864680.1:p.Asp652AlafsTer7 |