Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228157836del , CM000663.2:g.228157836del | GRCh38 |
| NC_000001.10:g.228345537del , CM000663.1:g.228345537del | GRCh37 |
| NC_000001.9:g.226412160del | NCBI36 |
| NG_011838.1:g.12985del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.78del MANE Select | ENSP00000355675.2:p.Trp27GlyfsTer12 | |
| ENST00000366714.2:c.78del | ENSP00000355675.2:p.Trp27GlyfsTer12 | |
| NM_020435.3:c.78del | NP_065168.2:p.Trp27GlyfsTer12 | |
| NM_020435.4:c.78del MANE Select | NP_065168.2:p.Trp27GlyfsTer12 |