Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418396dup , CM000676.2:g.23418396dup | GRCh38 |
| NC_000014.8:g.23887605dup , CM000676.1:g.23887605dup | GRCh37 |
| NC_000014.7:g.22957445dup | NCBI36 |
| NG_007884.1:g.22268dup , LRG_384:g.22268dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.3985dup MANE Select | NP_000248.2:p.Leu1329ProfsTer11 |
| ENST00000355349.4:c.3985dup MANE Select | ENSP00000347507.3:p.Leu1329ProfsTer11 |
| NM_000257.3:c.3985dup | NP_000248.2:p.Leu1329ProfsTer11 |
| ENST00000355349.3:c.3985dup | ENSP00000347507.3:p.Leu1329ProfsTer11 |
| XM_017021340.1:c.3985dup | XP_016876829.1:p.Leu1329ProfsTer11 |