Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213330_1213335del , CM000667.2:g.1213330_1213335del | GRCh38 |
| NC_000005.9:g.1213445_1213450del , CM000667.1:g.1213445_1213450del | GRCh37 |
| NC_000005.8:g.1266445_1266450del | NCBI36 |
| NG_008282.1:g.16736_16741del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-133_664-128del MANE Select | ENSP00000305302.10:n.664-133_664-128del | |
| ENST00000304460.10:c.664-133_664-128del | ENSP00000305302.10:n.664-133_664-128del | |
| ENST00000515652.5:c.572-133_572-128del | ENSP00000425701.1:n.572-133_572-128del | |
| NM_001003841.2:c.664-133_664-128del | NP_001003841.1:n.664-133_664-128del | |
| NM_001003841.3:c.664-133_664-128del MANE Select | NP_001003841.1:n.664-133_664-128del |