Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622065_49622067delinsCAG , CM000676.2:g.49622065_49622067delinsCAG | GRCh38 |
| NC_000014.8:g.50088783_50088785delinsCAG , CM000676.1:g.50088783_50088785delinsCAG | GRCh37 |
| NC_000014.7:g.49158533_49158535delinsCAG | NCBI36 |
| NG_008920.1:g.6295_6297delinsCAG | |
| NG_033054.1:g.3565_3567delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.797_799delinsCAG MANE Select | ENSP00000307423.2:p.Pro266= | |
| ENST00000305386.3:c.797_799delinsCAG | ENSP00000307423.2:p.Pro266= | |
| NM_002408.3:c.797_799delinsCAG | NP_002399.1:p.Pro266= | |
| NM_002408.4:c.797_799delinsCAG MANE Select | NP_002399.1:p.Pro266= |