Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271699dup , CM000668.2:g.31271699dup | GRCh38 |
| NC_000006.11:g.31239476dup , CM000668.1:g.31239476dup | GRCh37 |
| NC_000006.10:g.31347455dup | NCBI36 |
| NG_029422.2:g.5434dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.244dup MANE Select | ENSP00000365402.5:p.Glu82GlyfsTer17 | |
| ENST00000376228.9:c.244dup | ENSP00000365402.5:p.Glu82GlyfsTer17 | |
| ENST00000376237.8:c.244dup | ENSP00000365412.4:p.Glu82GlyfsTer17 | |
| ENST00000383329.7:c.244dup | ENSP00000372819.3:p.Glu82GlyfsTer17 | |
| ENST00000415537.1:c.242dup | ||
| ENST00000484378.1:n.263dup | ||
| ENST00000487245.5:n.353dup | ||
| ENST00000495835.1:n.433dup | ||
| NM_002117.5:c.244dup | NP_002108.4:p.Glu82GlyfsTer17 | |
| NM_002117.6:c.244dup MANE Select | NP_002108.4:p.Glu82GlyfsTer17 |