Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169525933_169525934del , CM000663.2:g.169525933_169525934del | GRCh38 |
| NC_000001.10:g.169495171_169495172del , CM000663.1:g.169495171_169495172del | GRCh37 |
| NC_000001.9:g.167761795_167761796del | NCBI36 |
| NG_011806.1:g.65599_65600del , LRG_553:g.65599_65600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5684_5685del MANE Select | ENSP00000356771.3:p.Gly1895AspfsTer13 | |
| ENST00000367796.3:c.5699_5700del | ENSP00000356770.3:p.Gly1900AspfsTer13 | |
| ENST00000367797.7:c.5684_5685del | ENSP00000356771.3:p.Gly1895AspfsTer13 | |
| NM_000130.4:c.5684_5685del , LRG_553t1:c.5684_5685del | NP_000121.2:p.Gly1895AspfsTer13 | |
| XM_017000660.2:c.5273_5274del | XP_016856149.1:p.Gly1758AspfsTer13 | |
| NM_000130.5:c.5684_5685del MANE Select | NP_000121.2:p.Gly1895AspfsTer13 |