Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41757018_41757019dup , CM000683.2:g.41757018_41757019dup | GRCh38 |
| NC_000021.8:g.43177178_43177179dup , CM000683.1:g.43177178_43177179dup | GRCh37 |
| NC_000021.7:g.42050247_42050248dup | NCBI36 |
| NG_032113.1:g.15071_15072dup | |
| NG_032113.2:g.15071_15072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.183-203_183-202dup MANE Select | ENSP00000332454.3:n.183-203_183-202dup | |
| ENST00000332512.7:c.183-203_183-202dup | ENSP00000332454.3:n.183-203_183-202dup | |
| ENST00000352483.3:c.183-203_183-202dup | ENSP00000330161.2:n.183-203_183-202dup | |
| NM_020639.2:c.183-203_183-202dup | NP_065690.2:n.183-203_183-202dup | |
| NM_020639.3:c.183-203_183-202dup MANE Select | NP_065690.2:n.183-203_183-202dup |