Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445581dup , CM000663.2:g.15445581dup | GRCh38 |
| NC_000001.10:g.15772076dup , CM000663.1:g.15772076dup | GRCh37 |
| NC_000001.9:g.15644663dup | NCBI36 |
| NG_009253.1:g.12139dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.640-16dup MANE Select | ENSP00000365116.4:n.640-16dup | |
| ENST00000375943.6:c.*94-16dup | ENSP00000365110.2:n.*94-16dup | |
| ENST00000375949.4:c.640-16dup | ENSP00000365116.4:n.640-16dup | |
| ENST00000483406.1:n.404-16dup | ||
| NM_007272.2:c.640-16dup | NP_009203.2:n.640-16dup | |
| XM_011540550.1:c.494-16dup | XP_011538852.1:n.494-16dup | |
| NM_007272.3:c.640-16dup MANE Select | NP_009203.2:n.640-16dup |