Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010174_25010175del , CM000685.2:g.25010174_25010175del | GRCh38 |
| NC_000023.10:g.25028291_25028292del , CM000685.1:g.25028291_25028292del | GRCh37 |
| NC_000023.9:g.24938212_24938213del | NCBI36 |
| NG_008281.1:g.10775_10776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+86_1119+87del MANE Select | ENSP00000368332.4:n.1119+86_1119+87del | |
| ENST00000379044.4:c.1119+86_1119+87del | ENSP00000368332.4:n.1119+86_1119+87del | |
| NM_139058.2:c.1119+86_1119+87del | NP_620689.1:n.1119+86_1119+87del | |
| NM_139058.3:c.1119+86_1119+87del MANE Select | NP_620689.1:n.1119+86_1119+87del |