Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86654020_86654029del , CM000670.2:g.86654020_86654029del | GRCh38 |
| NC_000008.10:g.87666248_87666257del , CM000670.1:g.87666248_87666257del | GRCh37 |
| NC_000008.9:g.87735364_87735373del | NCBI36 |
| NG_016980.1:g.94648_94657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.887_896del MANE Select | ENSP00000316605.5:p.Thr296AsnfsTer9 | |
| ENST00000681546.1:n.707_716del | ||
| ENST00000681746.1:c.887_896del | ENSP00000505959.1:p.Thr296AsnfsTer9 | |
| ENST00000320005.5:c.887_896del | ENSP00000316605.5:p.Thr296AsnfsTer9 | |
| NM_019098.4:c.887_896del | NP_061971.3:p.Thr296AsnfsTer9 | |
| XM_011517138.1:c.473_482del | XP_011515440.1:p.Thr158AsnfsTer9 | |
| XM_011517138.2:c.473_482del | XP_011515440.1:p.Thr158AsnfsTer9 | |
| NM_019098.5:c.887_896del MANE Select | NP_061971.3:p.Thr296AsnfsTer9 |