Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48485374dup , CM000677.2:g.48485374dup | GRCh38 |
| NC_000015.9:g.48777571dup , CM000677.1:g.48777571dup | GRCh37 |
| NC_000015.8:g.46564863dup | NCBI36 |
| NG_008805.2:g.165416dup , LRG_778:g.165416dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3712+1dup | ||
| ENST00000674301.2:c.3712+1dup | ||
| ENST00000684448.1:n.2386+1dup | ||
| ENST00000316623.10:c.3712+1dup | ||
| ENST00000316623.9:c.3712+1dup | ||
| ENST00000537463.6:c.637-10723dup | ENSP00000440294.2:n.637-10723dup | |
| NM_000138.4:c.3712+1dup , LRG_778t1:c.3712+1dup | ||
| NM_000138.5:c.3712+1dup |