Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033753dup , CM000670.2:g.31033753dup | GRCh38 |
| NC_000008.10:g.30891269dup , CM000670.1:g.30891269dup | GRCh37 |
| NC_000008.9:g.31010811dup | NCBI36 |
| NG_008870.1:g.5492dup , LRG_524:g.5492dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-297dup , LRG_524t1:c.-297dup | NP_000544.2:n.-297dup | |
| NM_000553.5:c.-297dup | NP_000544.2:n.-297dup | |
| XM_011544639.3:c.-297dup | XP_011542941.1:n.-297dup | |
| XR_949470.3:n.5dup | ||
| XR_949471.3:n.5dup | ||
| XR_949472.3:n.5dup |