Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652191_171652193delinsCAG , CM000663.2:g.171652191_171652193delinsCAG | GRCh38 |
| NC_000001.10:g.171621331_171621333delinsCAG , CM000663.1:g.171621331_171621333delinsCAG | GRCh37 |
| NC_000001.9:g.169887954_169887956delinsCAG | NCBI36 |
| NG_008859.1:g.5441_5443delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.419_421delinsCTG MANE Select | ENSP00000037502.5:p.Thr140= | |
| ENST00000638471.1:c.130+289_130+291delinsCTG | ENSP00000491206.1:n.130+289_130+291delinsCTG | |
| ENST00000037502.10:c.419_421delinsCTG | ENSP00000037502.5:p.Thr140= | |
| ENST00000614688.1:c.419_421delinsCTG | ENSP00000478680.1:p.Thr140= | |
| NM_000261.1:c.419_421delinsCTG | NP_000252.1:p.Thr140= | |
| NM_000261.2:c.419_421delinsCTG MANE Select | NP_000252.1:p.Thr140= |