Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213213_1213220del , CM000667.2:g.1213213_1213220del | GRCh38 |
| NC_000005.9:g.1213328_1213335del , CM000667.1:g.1213328_1213335del | GRCh37 |
| NC_000005.8:g.1266328_1266335del | NCBI36 |
| NG_008282.1:g.16619_16626del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-250_664-243del MANE Select | ENSP00000305302.10:n.664-250_664-243del | |
| ENST00000304460.10:c.664-250_664-243del | ENSP00000305302.10:n.664-250_664-243del | |
| ENST00000515652.5:c.572-250_572-243del | ENSP00000425701.1:n.572-250_572-243del | |
| NM_001003841.2:c.664-250_664-243del | NP_001003841.1:n.664-250_664-243del | |
| NM_001003841.3:c.664-250_664-243del MANE Select | NP_001003841.1:n.664-250_664-243del |