Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043378_94043380delinsCTG , CM000663.2:g.94043378_94043380delinsCTG | GRCh38 |
| NC_000001.10:g.94508934_94508936delinsCTG , CM000663.1:g.94508934_94508936delinsCTG | GRCh37 |
| NC_000001.9:g.94281522_94281524delinsCTG | NCBI36 |
| NG_009073.1:g.82770_82772delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3146_3148delinsCAG MANE Select | ENSP00000359245.3:p.Thr1049= | |
| ENST00000370225.3:c.3146_3148delinsCAG | ENSP00000359245.3:p.Thr1049= | |
| ENST00000536513.5:c.-64-3291_-64-3289delinsCAG | ENSP00000439707.2:n.-64-3291_-64-3289delinsCAG | |
| NM_000350.2:c.3146_3148delinsCAG | NP_000341.2:p.Thr1049= | |
| NM_000350.3:c.3146_3148delinsCAG MANE Select | NP_000341.2:p.Thr1049= |