Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784028del , CM000682.2:g.51784028del | GRCh38 |
| NC_000020.10:g.50400567del , CM000682.1:g.50400567del | GRCh37 |
| NC_000020.9:g.49833974del | NCBI36 |
| NG_008000.1:g.23490del , LRG_675:g.23490del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020436.5:c.*245del MANE Select | NP_065169.1:n.*245del |
| ENST00000217086.9:c.*245del MANE Select | ENSP00000217086.4:n.*245del |
| NM_001318031.1:c.*245del | NP_001304960.1:n.*245del |
| NM_001318031.2:c.*245del | NP_001304960.1:n.*245del |
| NM_020436.4:c.*245del | NP_065169.1:n.*245del |
| ENST00000217086.8:c.*245del | ENSP00000217086.4:n.*245del |
| XM_005260467.2:c.*245del | XP_005260524.1:n.*245del |
| XM_006723834.2:c.*245del | XP_006723897.1:n.*245del |
| XM_011528919.1:c.*245del | XP_011527221.1:n.*245del |
| XM_011528920.1:c.*245del | XP_011527222.1:n.*245del |
| XM_011528921.1:c.*245del | XP_011527223.1:n.*245del |
| XM_011528922.1:c.*245del | XP_011527224.1:n.*245del |
| XM_011528923.1:c.*245del | XP_011527225.1:n.*245del |