Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981606_149981608delinsCAG , CM000667.2:g.149981606_149981608delinsCAG | GRCh38 |
| NC_000005.9:g.149361169_149361171delinsCAG , CM000667.1:g.149361169_149361171delinsCAG | GRCh37 |
| NC_000005.8:g.149341362_149341364delinsCAG | NCBI36 |
| NG_007147.2:g.22724_22726delinsCAG , LRG_684:g.22724_22726delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.2013_2015delinsCAG MANE Select | ENSP00000286298.4:p.Arg671= | |
| ENST00000286298.4:c.2013_2015delinsCAG | ENSP00000286298.4:p.Arg671= | |
| ENST00000503336.1:c.372+3255_372+3257delinsCAG | ENSP00000426053.1:n.372+3255_372+3257delinsCAG | |
| NM_000112.3:c.2013_2015delinsCAG , LRG_684t1:c.2013_2015delinsCAG | NP_000103.2:p.Arg671= | |
| XM_017009191.2:c.2013_2015delinsCAG | XP_016864680.1:p.Arg671= | |
| NM_000112.4:c.2013_2015delinsCAG MANE Select | NP_000103.2:p.Arg671= |