Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625485dup , CM000673.2:g.22625485dup | GRCh38 |
| NC_000011.9:g.22647031dup , CM000673.1:g.22647031dup | GRCh37 |
| NC_000011.8:g.22603607dup | NCBI36 |
| NG_007425.1:g.5357dup , LRG_527:g.5357dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.326dup MANE Select | ENSP00000330875.3:p.Tyr109Ter | |
| ENST00000327470.4:c.326dup | ENSP00000330875.3:p.Tyr109Ter | |
| NM_022725.3:c.326dup , LRG_527t1:c.326dup | NP_073562.1:p.Tyr109Ter | |
| NM_022725.4:c.326dup MANE Select | NP_073562.1:p.Tyr109Ter |