Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779910_215779913delinsCTGG , CM000663.2:g.215779910_215779913delinsCTGG | GRCh38 |
| NC_000001.10:g.215953252_215953255delinsCTGG , CM000663.1:g.215953252_215953255delinsCTGG | GRCh37 |
| NC_000001.9:g.214019875_214019878delinsCTGG | NCBI36 |
| NG_009497.1:g.648484_648487delinsCCAG | |
| NG_009497.2:g.648536_648539delinsCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10869_10872delinsCCAG MANE Select | ENSP00000305941.3:p.Tyr3623= | |
| ENST00000674083.1:c.10869_10872delinsCCAG | ENSP00000501296.1:p.Tyr3623= | |
| ENST00000307340.7:c.10869_10872delinsCCAG | ENSP00000305941.3:p.Tyr3623= | |
| NM_206933.2:c.10869_10872delinsCCAG | NP_996816.2:p.Tyr3623= | |
| NM_206933.3:c.10869_10872delinsCCAG | NP_996816.2:p.Tyr3623= | |
| NM_206933.4:c.10869_10872delinsCCAG MANE Select | NP_996816.3:p.Tyr3623= |