Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072909_63072916dup , CM000670.2:g.63072909_63072916dup | GRCh38 |
| NC_000008.10:g.63985468_63985475dup , CM000670.1:g.63985468_63985475dup | GRCh37 |
| NC_000008.9:g.64148022_64148029dup | NCBI36 |
| NG_016123.1:g.18140_18147dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.358+21_358+28dup MANE Select | ENSP00000260116.4:n.358+21_358+28dup | |
| ENST00000260116.4:c.358+21_358+28dup | ENSP00000260116.4:n.358+21_358+28dup | |
| ENST00000521138.1:n.232+12904_232+12911dup | ||
| NM_000370.3:c.358+21_358+28dup MANE Select | NP_000361.1:n.358+21_358+28dup | |
| XM_006716468.2:c.205-8598_205-8591dup | XP_006716531.1:n.205-8598_205-8591dup | |
| XM_006716468.4:c.205-8598_205-8591dup | XP_006716531.1:n.205-8598_205-8591dup |