Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990512_45990513insCAG , CM000683.2:g.45990512_45990513insCAG | GRCh38 |
| NC_000021.8:g.47410426_47410427insCAG , CM000683.1:g.47410426_47410427insCAG | GRCh37 |
| NC_000021.7:g.46234854_46234855insCAG | NCBI36 |
| NG_008674.1:g.13764_13765insCAG , LRG_475:g.13764_13765insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+90_1002+91insCAG MANE Select | ENSP00000355180.3:n.1002+90_1002+91insCAG | |
| ENST00000361866.7:c.1002+90_1002+91insCAG | ENSP00000355180.3:n.1002+90_1002+91insCAG | |
| ENST00000612273.1:c.1002+90_1002+91insCAG | ENSP00000483630.1:n.1002+90_1002+91insCAG | |
| NM_001848.2:c.1002+90_1002+91insCAG , LRG_475t1:c.1002+90_1002+91insCAG | NP_001839.2:n.1002+90_1002+91insCAG | |
| NM_001848.3:c.1002+90_1002+91insCAG MANE Select | NP_001839.2:n.1002+90_1002+91insCAG |