Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120736987_120736990delinsTGAA , CM000674.2:g.120736987_120736990delinsTGAA | GRCh38 |
| NC_000012.11:g.121174790_121174793delinsTGAA , CM000674.1:g.121174790_121174793delinsTGAA | GRCh37 |
| NC_000012.10:g.119659173_119659176delinsTGAA | NCBI36 |
| NG_007991.1:g.16220_16223delinsTGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.212_215delinsTGAA MANE Select | ENSP00000242592.4:p.Val71= | |
| ENST00000242592.8:c.212_215delinsTGAA | ENSP00000242592.4:p.Val71= | |
| ENST00000411593.2:c.212_215delinsTGAA | ENSP00000401045.2:p.Val71= | |
| ENST00000539690.1:n.324_327delinsTGAA | ||
| NM_000017.3:c.212_215delinsTGAA | NP_000008.1:p.Val71= | |
| NM_001302554.1:c.212_215delinsTGAA | NP_001289483.1:p.Val71= | |
| NM_000017.4:c.212_215delinsTGAA MANE Select | NP_000008.1:p.Val71= | |
| NM_001302554.2:c.212_215delinsTGAA | NP_001289483.1:p.Val71= |