Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645233del , CM000667.2:g.45645233del | GRCh38 |
| NC_000005.9:g.45645335del , CM000667.1:g.45645335del | GRCh37 |
| NC_000005.8:g.45681092del | NCBI36 |
| NG_042183.1:g.55888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.803del MANE Select | ENSP00000307342.4:p.Leu268TyrfsTer7 | |
| ENST00000637256.1:n.31del | ||
| ENST00000673735.1:c.803del | ENSP00000501107.1:p.Leu268TyrfsTer7 | |
| ENST00000303230.5:c.803del | ENSP00000307342.4:p.Leu268TyrfsTer7 | |
| ENST00000634658.1:c.803del | ENSP00000489134.1:p.Leu268TyrfsTer7 | |
| NM_021072.3:c.803del | NP_066550.2:p.Leu268TyrfsTer7 | |
| NM_021072.4:c.803del MANE Select | NP_066550.2:p.Leu268TyrfsTer7 |