Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756875_41756876insTGC , CM000683.2:g.41756875_41756876insTGC | GRCh38 |
| NC_000021.8:g.43177035_43177036insTGC , CM000683.1:g.43177035_43177036insTGC | GRCh37 |
| NC_000021.7:g.42050104_42050105insTGC | NCBI36 |
| NG_032113.1:g.15215_15216insCAG | |
| NG_032113.2:g.15215_15216insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.183-59_183-58insCAG MANE Select | ENSP00000332454.3:n.183-59_183-58insCAG | |
| ENST00000332512.7:c.183-59_183-58insCAG | ENSP00000332454.3:n.183-59_183-58insCAG | |
| ENST00000352483.3:c.183-59_183-58insCAG | ENSP00000330161.2:n.183-59_183-58insCAG | |
| NM_020639.2:c.183-59_183-58insCAG | NP_065690.2:n.183-59_183-58insCAG | |
| NM_020639.3:c.183-59_183-58insCAG MANE Select | NP_065690.2:n.183-59_183-58insCAG |