MyVariant.info:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115666_44115671dup , CM000682.2:g.44115666_44115671dup | GRCh38 |
| NC_000020.10:g.42744306_42744311dup , CM000682.1:g.42744306_42744311dup | GRCh37 |
| NC_000020.9:g.42177720_42177725dup | NCBI36 |
| NG_031867.1:g.76910_76915dup , LRG_394:g.76910_76915dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.2006_2010+1dup | ||
| ENST00000372980.3:c.2006_2010+1dup | ||
| NM_020433.4:c.2006_2010+1dup , LRG_394t1:c.2006_2010+1dup | ||
| XM_006723832.2:c.2006_2010+1dup | ||
| NM_020433.5:c.2006_2010+1dup |