Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488628_52488629insGAA , CM000674.2:g.52488628_52488629insGAA | GRCh38 |
| NC_000012.11:g.52882412_52882413insGAA , CM000674.1:g.52882412_52882413insGAA | GRCh37 |
| NC_000012.10:g.51168679_51168680insGAA | NCBI36 |
| NG_008298.1:g.9770_9771insTCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.1204-80_1204-79insTCT MANE Select | NP_005545.1:n.1204-80_1204-79insTCT |
| ENST00000330722.7:c.1204-80_1204-79insTCT MANE Select | ENSP00000369317.3:n.1204-80_1204-79insTCT |
| NM_005554.3:c.1204-80_1204-79insTCT | NP_005545.1:n.1204-80_1204-79insTCT |
| ENST00000330722.6:c.1204-80_1204-79insTCT | ENSP00000369317.3:n.1204-80_1204-79insTCT |