Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488435_52488436delinsCT , CM000674.2:g.52488435_52488436delinsCT | GRCh38 |
| NC_000012.11:g.52882219_52882220delinsCT , CM000674.1:g.52882219_52882220delinsCT | GRCh37 |
| NC_000012.10:g.51168486_51168487delinsCT | NCBI36 |
| NG_008298.1:g.9962_9963delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1316_1317delinsAG MANE Select | ENSP00000369317.3:p.Gln439= | |
| ENST00000330722.6:c.1316_1317delinsAG | ENSP00000369317.3:p.Gln439= | |
| NM_005554.3:c.1316_1317delinsAG | NP_005545.1:p.Gln439= | |
| NM_005554.4:c.1316_1317delinsAG MANE Select | NP_005545.1:p.Gln439= |