Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033766dup , CM000670.2:g.31033766dup | GRCh38 |
| NC_000008.10:g.30891282dup , CM000670.1:g.30891282dup | GRCh37 |
| NC_000008.9:g.31010824dup | NCBI36 |
| NG_008870.1:g.5505dup , LRG_524:g.5505dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-284dup , LRG_524t1:c.-284dup | NP_000544.2:n.-284dup | |
| NM_000553.5:c.-284dup | NP_000544.2:n.-284dup | |
| XM_011544639.3:c.-284dup | XP_011542941.1:n.-284dup | |
| XR_949470.3:n.18dup | ||
| XR_949471.3:n.18dup | ||
| XR_949472.3:n.18dup |