Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286351_47286353delinsCAG , CM000679.2:g.47286351_47286353delinsCAG | GRCh38 |
| NC_000017.10:g.45363717_45363719delinsCAG , CM000679.1:g.45363717_45363719delinsCAG | GRCh37 |
| NC_000017.9:g.42718716_42718718delinsCAG | NCBI36 |
| NG_008332.2:g.37510_37512delinsCAG , LRG_481:g.37510_37512delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.706_708delinsCAG | ENSP00000513002.1:p.Gln236= | |
| ENST00000559488.7:c.706_708delinsCAG MANE Select | ENSP00000452786.2:p.Gln236= | |
| ENST00000559488.5:c.706_708delinsCAG | ENSP00000452786.1:p.Gln236= | |
| ENST00000560629.1:c.671_673delinsCAG | ||
| ENST00000571680.1:c.706_708delinsCAG | ENSP00000461626.1:p.Gln236= | |
| NM_000212.2:c.706_708delinsCAG , LRG_481t1:c.706_708delinsCAG | NP_000203.2:p.Gln236= | |
| NM_000212.3:c.706_708delinsCAG MANE Select | NP_000203.2:p.Gln236= |