Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018946dup , CM000663.2:g.17018946dup | GRCh38 |
| NC_000001.10:g.17345441dup , CM000663.1:g.17345441dup | GRCh37 |
| NC_000001.9:g.17218028dup | NCBI36 |
| NG_012340.1:g.40227dup , LRG_316:g.40227dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.609dup | ENSP00000481376.2:p.Lys204GlufsTer14 | |
| ENST00000491274.6:c.738dup | ENSP00000480482.2:p.Lys247GlufsTer14 | |
| ENST00000375499.8:c.780dup MANE Select | ENSP00000364649.3:p.Lys261GlufsTer14 | |
| ENST00000375499.7:c.780dup | ENSP00000364649.3:p.Lys261GlufsTer14 | |
| ENST00000475049.5:n.205dup | ||
| ENST00000485092.5:n.444dup | ||
| NM_003000.2:c.780dup , LRG_316t1:c.780dup | NP_002991.2:p.Lys261GlufsTer14 | |
| NM_003000.3:c.780dup MANE Select | NP_002991.2:p.Lys261GlufsTer14 |