Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213593del , CM000667.2:g.1213593del | GRCh38 |
| NC_000005.9:g.1213708del , CM000667.1:g.1213708del | GRCh37 |
| NC_000005.8:g.1266708del | NCBI36 |
| NG_008282.1:g.16999del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+20del MANE Select | ENSP00000305302.10:n.774+20del | |
| ENST00000304460.10:c.774+20del | ENSP00000305302.10:n.774+20del | |
| ENST00000515652.5:c.682+20del | ENSP00000425701.1:n.682+20del | |
| NM_001003841.2:c.774+20del | NP_001003841.1:n.774+20del | |
| NM_001003841.3:c.774+20del MANE Select | NP_001003841.1:n.774+20del |