Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404495_94404499delinsCCCAG , CM000669.2:g.94404495_94404499delinsCCCAG | GRCh38 |
| NC_000007.13:g.94033807_94033811delinsCCCAG , CM000669.1:g.94033807_94033811delinsCCCAG | GRCh37 |
| NC_000007.12:g.93871743_93871747delinsCCCAG | NCBI36 |
| NG_007405.1:g.14935_14939delinsCCCAG , LRG_2:g.14935_14939delinsCCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.280-61_280-57delinsCCCAG MANE Select | ENSP00000297268.6:n.280-61_280-57delinsCCCAG | |
| ENST00000297268.10:c.280-61_280-57delinsCCCAG | ENSP00000297268.6:n.280-61_280-57delinsCCCAG | |
| ENST00000620463.1:c.274-61_274-57delinsCCCAG | ENSP00000477719.1:n.274-61_274-57delinsCCCAG | |
| NM_000089.3:c.280-61_280-57delinsCCCAG , LRG_2t1:c.280-61_280-57delinsCCCAG | NP_000080.2:n.280-61_280-57delinsCCCAG | |
| NM_000089.4:c.280-61_280-57delinsCCCAG MANE Select | NP_000080.2:n.280-61_280-57delinsCCCAG |