Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110150372_110150374del , CM000675.2:g.110150372_110150374del | GRCh38 |
| NC_000013.10:g.110802719_110802721del , CM000675.1:g.110802719_110802721del | GRCh37 |
| NC_000013.9:g.109600720_109600722del | NCBI36 |
| NG_011544.2:g.161780_161782del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.5003_5005del MANE Select | NP_001836.3:p.Arg1668del |
| ENST00000375820.10:c.5003_5005del MANE Select | ENSP00000364979.4:p.Arg1668del |
| NM_001845.5:c.5003_5005del | NP_001836.3:p.Arg1668del |
| ENST00000375820.8:c.5003_5005del | ENSP00000364979.4:p.Arg1668del |
| ENST00000649720.1:n.1171_1173del | |
| ENST00000650424.1:c.1153_1155del | |
| XM_011521048.1:c.4811_4813del | XP_011519350.1:p.Arg1604del |
| XM_011521048.2:c.4811_4813del | XP_011519350.1:p.Arg1604del |