Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043405_56043406del , CM000674.2:g.56043405_56043406del | GRCh38 |
| NC_000012.11:g.56437189_56437190del , CM000674.1:g.56437189_56437190del | GRCh37 |
| NC_000012.10:g.54723456_54723457del | NCBI36 |
| NG_023201.1:g.6504_6505del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.224_225del | ENSP00000348849.5:p.Val75GlufsTer15 | |
| ENST00000646449.2:c.224_225del MANE Select | ENSP00000496643.1:p.Val75GlufsTer15 | |
| ENST00000356464.9:c.224_225del | ENSP00000348849.5:p.Val75GlufsTer15 | |
| ENST00000548590.1:n.1011_1012del | ||
| ENST00000552361.1:c.224_225del | ENSP00000450339.1:p.Val75GlufsTer15 | |
| NM_001029.3:c.224_225del | NP_001020.2:p.Val75GlufsTer15 | |
| NM_001029.5:c.224_225del MANE Select | NP_001020.2:p.Val75GlufsTer15 |