Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644203_40644206dup , CM000675.2:g.40644203_40644206dup | GRCh38 |
| NC_000013.10:g.41218340_41218343dup , CM000675.1:g.41218340_41218343dup | GRCh37 |
| NC_000013.9:g.40116340_40116343dup | NCBI36 |
| NG_023244.1:g.27393_27396dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+21378_630+21381dup MANE Select | ENSP00000368880.4:n.630+21378_630+21381dup | |
| ENST00000655267.1:n.333+21378_333+21381dup | ||
| ENST00000660760.1:n.296-10957_296-10954dup | ||
| ENST00000379561.5:c.630+21378_630+21381dup | ENSP00000368880.4:n.630+21378_630+21381dup | |
| NM_002015.3:c.630+21378_630+21381dup | NP_002006.2:n.630+21378_630+21381dup | |
| XR_941536.1:n.1226+1134_1226+1137dup | ||
| NM_002015.4:c.630+21378_630+21381dup MANE Select | NP_002006.2:n.630+21378_630+21381dup |