Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461928_122461929delinsCT , CM000672.2:g.122461928_122461929delinsCT | GRCh38 |
| NC_000010.10:g.124221444_124221445delinsCT , CM000672.1:g.124221444_124221445delinsCT | GRCh37 |
| NC_000010.9:g.124211434_124211435delinsCT | NCBI36 |
| NG_011554.1:g.5404_5405delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.276_277delinsCT MANE Select | ENSP00000357980.3:p.Pro92= | |
| ENST00000648167.1:c.154+3219_154+3220delinsCT | ENSP00000498033.1:n.154+3219_154+3220delinsCT | |
| ENST00000368984.7:c.276_277delinsCT | ENSP00000357980.3:p.Pro92= | |
| NM_002775.4:c.276_277delinsCT | NP_002766.1:p.Pro92= | |
| NM_002775.5:c.276_277delinsCT MANE Select | NP_002766.1:p.Pro92= |