Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127685_160127700del , CM000663.2:g.160127685_160127700del | GRCh38 |
| NC_000001.10:g.160097475_160097490del , CM000663.1:g.160097475_160097490del | GRCh37 |
| NC_000001.9:g.158364099_158364114del | NCBI36 |
| NG_008014.1:g.16928_16943del , LRG_6:g.16928_16943del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.882_897del MANE Select | ENSP00000354490.3:p.Gly295TrpfsTer27 | |
| ENST00000361216.7:c.882_897del | ENSP00000354490.3:p.Gly295TrpfsTer27 | |
| ENST00000392233.7:c.882_897del | ENSP00000376066.3:p.Gly295TrpfsTer27 | |
| ENST00000447527.1:c.14_29del | ||
| ENST00000472488.5:n.985_1000del | ||
| NM_000702.3:c.882_897del | NP_000693.1:p.Gly295TrpfsTer27 | |
| NM_000702.4:c.882_897del MANE Select | NP_000693.1:p.Gly295TrpfsTer27 |