Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213335_1213342del , CM000667.2:g.1213335_1213342del | GRCh38 |
| NC_000005.9:g.1213450_1213457del , CM000667.1:g.1213450_1213457del | GRCh37 |
| NC_000005.8:g.1266450_1266457del | NCBI36 |
| NG_008282.1:g.16741_16748del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-128_664-121del MANE Select | ENSP00000305302.10:n.664-128_664-121del | |
| ENST00000304460.10:c.664-128_664-121del | ENSP00000305302.10:n.664-128_664-121del | |
| ENST00000515652.5:c.572-128_572-121del | ENSP00000425701.1:n.572-128_572-121del | |
| NM_001003841.2:c.664-128_664-121del | NP_001003841.1:n.664-128_664-121del | |
| NM_001003841.3:c.664-128_664-121del MANE Select | NP_001003841.1:n.664-128_664-121del |