Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404554del , CM000669.2:g.94404554del | GRCh38 |
| NC_000007.13:g.94033866del , CM000669.1:g.94033866del | GRCh37 |
| NC_000007.12:g.93871802del | NCBI36 |
| NG_007405.1:g.14994del , LRG_2:g.14994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.280-2del MANE Select | ENSP00000297268.6:n.280-2del | |
| ENST00000297268.10:c.280-2del | ENSP00000297268.6:n.280-2del | |
| ENST00000620463.1:c.274-2del | ENSP00000477719.1:n.274-2del | |
| NM_000089.3:c.280-2del , LRG_2t1:c.280-2del | NP_000080.2:n.280-2del | |
| NM_000089.4:c.280-2del MANE Select | NP_000080.2:n.280-2del |