Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45393648_45393649dup , CM000677.2:g.45393648_45393649dup | GRCh38 |
| NC_000015.9:g.45685846_45685847dup , CM000677.1:g.45685846_45685847dup | GRCh37 |
| NC_000015.8:g.43473138_43473139dup | NCBI36 |
| NG_011674.2:g.13669_13670dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.640+3273_640+3274dup | ||
| ENST00000527933.2:n.512+2518_512+2519dup | ||
| ENST00000560538.1:n.338+3273_338+3274dup | ||
| ENST00000561148.5:c.-319+3273_-319+3274dup | ENSP00000453860.1:n.-319+3273_-319+3274dup | |
| XM_011521450.1:c.31+3273_31+3274dup | XP_011519752.1:n.31+3273_31+3274dup | |
| NM_001321015.1:c.-395+3273_-395+3274dup | NP_001307944.1:n.-395+3273_-395+3274dup | |
| NM_001321015.2:c.-395+3273_-395+3274dup | NP_001307944.1:n.-395+3273_-395+3274dup |