Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033780_31033781dup , CM000670.2:g.31033780_31033781dup | GRCh38 |
| NC_000008.10:g.30891296_30891297dup , CM000670.1:g.30891296_30891297dup | GRCh37 |
| NC_000008.9:g.31010838_31010839dup | NCBI36 |
| NG_008870.1:g.5519_5520dup , LRG_524:g.5519_5520dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-270_-269dup , LRG_524t1:c.-270_-269dup | NP_000544.2:n.-270_-269dup | |
| XM_011544639.1:c.-270_-269dup | XP_011542941.1:n.-270_-269dup | |
| XR_949470.1:n.4_5dup | ||
| XR_949471.1:n.4_5dup | ||
| XR_949472.1:n.4_5dup | ||
| NM_000553.5:c.-270_-269dup | NP_000544.2:n.-270_-269dup | |
| XM_011544639.3:c.-270_-269dup | XP_011542941.1:n.-270_-269dup | |
| XR_949470.3:n.32_33dup | ||
| XR_949471.3:n.32_33dup | ||
| XR_949472.3:n.32_33dup |