Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154784dup , CM000668.2:g.3154784dup | GRCh38 |
| NC_000006.11:g.3155018dup , CM000668.1:g.3155018dup | GRCh37 |
| NC_000006.10:g.3100017dup | NCBI36 |
| NG_042223.1:g.7771dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.422dup MANE Select | ENSP00000369703.2:p.Gly142ArgfsTer? | |
| ENST00000679400.1:n.478dup | ||
| ENST00000679907.1:n.810dup | ||
| ENST00000680036.1:n.1204dup | ||
| ENST00000680967.1:n.1512dup | ||
| ENST00000333628.3:c.422dup | ENSP00000369703.2:p.Gly142ArgfsTer? | |
| ENST00000489942.1:n.617dup | ||
| NM_001069.2:c.422dup | NP_001060.1:p.Gly142ArgfsTer? | |
| NM_001310315.1:c.167dup | NP_001297244.1:p.Gly57ArgfsTer? | |
| NM_001069.3:c.422dup MANE Select | NP_001060.1:p.Gly142ArgfsTer? | |
| NM_001310315.2:c.167dup | NP_001297244.1:p.Gly57ArgfsTer? |