Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071083_29071084dup , CM000664.2:g.29071083_29071084dup | GRCh38 |
| NC_000002.11:g.29293949_29293950dup , CM000664.1:g.29293949_29293950dup | GRCh37 |
| NC_000002.10:g.29147453_29147454dup | NCBI36 |
| NG_021427.1:g.8182_8183dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3182_3183dup MANE Select | ENSP00000332809.4:p.Glu1062ProfsTer? | |
| ENST00000331664.5:c.3182_3183dup | ENSP00000332809.4:p.Glu1062ProfsTer? | |
| NM_001029883.2:c.3182_3183dup | NP_001025054.1:p.Glu1062ProfsTer? | |
| XM_011532826.1:c.3182_3183dup | XP_011531128.1:p.Glu1062ProfsTer? | |
| XR_939901.1:n.185+1916_185+1917dup | ||
| XR_939902.1:n.173+1928_173+1929dup | ||
| NM_001029883.3:c.3182_3183dup MANE Select | NP_001025054.1:p.Glu1062ProfsTer? |