Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377021dup , CM000664.2:g.47377021dup | GRCh38 |
| NC_000002.11:g.47604160dup , CM000664.1:g.47604160dup | GRCh37 |
| NC_000002.10:g.47457664dup | NCBI36 |
| NG_012352.2:g.36859dup , LRG_215:g.36859dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263735.9:c.499dup MANE Select | ENSP00000263735.4:p.Gln167ProfsTer21 | |
| ENST00000263735.8:c.499dup | ENSP00000263735.4:p.Gln167ProfsTer21 | |
| ENST00000405271.5:c.583dup | ENSP00000385476.1:p.Gln195ProfsTer21 | |
| ENST00000456133.5:c.583dup | ENSP00000410675.1:p.Gln195ProfsTer21 | |
| ENST00000490733.1:n.348dup | ||
| NM_002354.2:c.499dup , LRG_215t1:c.499dup | NP_002345.2:p.Gln167ProfsTer21 | |
| NM_002354.3:c.499dup MANE Select | NP_002345.2:p.Gln167ProfsTer21 |