Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134148579dup , CM000673.2:g.134148579dup | GRCh38 |
| NC_000011.9:g.134018474dup , CM000673.1:g.134018474dup | GRCh37 |
| NC_000011.8:g.133523684dup | NCBI36 |
| NG_028348.1:g.84655dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299106.9:c.745dup MANE Select | ENSP00000299106.4:p.Val249GlyfsTer28 | |
| ENST00000299106.8:c.745dup | ENSP00000299106.4:p.Val249GlyfsTer28 | |
| ENST00000441717.3:c.592dup | ENSP00000395742.3:p.Val198GlyfsTer28 | |
| ENST00000533711.1:n.782dup | ||
| NM_001205329.1:c.592dup | NP_001192258.1:p.Val198GlyfsTer28 | |
| NM_032801.4:c.745dup | NP_116190.3:p.Val249GlyfsTer28 | |
| NM_032801.5:c.745dup MANE Select | NP_116190.3:p.Val249GlyfsTer28 | |
| NM_001205329.2:c.592dup | NP_001192258.1:p.Val198GlyfsTer28 |