Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853716dup , CM000685.2:g.46853716dup | GRCh38 |
| NC_000023.10:g.46713151dup , CM000685.1:g.46713151dup | GRCh37 |
| NC_000023.9:g.46598095dup | NCBI36 |
| NG_009107.1:g.21805dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.343dup MANE Select | ENSP00000218340.3:p.Gln115ProfsTer9 | |
| ENST00000218340.3:c.343dup | ENSP00000218340.3:p.Gln115ProfsTer9 | |
| NM_006915.2:c.343dup | NP_008846.2:p.Gln115ProfsTer9 | |
| NM_006915.3:c.343dup MANE Select | NP_008846.2:p.Gln115ProfsTer9 |