Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410851dup , CM000677.2:g.48410851dup | GRCh38 |
| NC_000015.9:g.48703048dup , CM000677.1:g.48703048dup | GRCh37 |
| NC_000015.8:g.46490340dup | NCBI36 |
| NG_008805.2:g.239938dup , LRG_778:g.239938dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1563dup | ENSP00000453958.2:n.*1563dup | |
| ENST00000682158.1:n.2136dup | ||
| ENST00000682170.1:n.2936dup | ||
| ENST00000682767.1:n.2052dup | ||
| ENST00000316623.10:c.*139dup MANE Select | ENSP00000325527.5:n.*139dup | |
| ENST00000316623.9:c.*139dup | ENSP00000325527.5:n.*139dup | |
| ENST00000559133.5:c.4124dup | ||
| NM_000138.4:c.*139dup , LRG_778t1:c.*139dup | NP_000129.3:n.*139dup | |
| NM_000138.5:c.*139dup MANE Select | NP_000129.3:n.*139dup |