Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350130_47350131delinsCG , CM000672.2:g.47350130_47350131delinsCG | GRCh38 |
| NC_000010.10:g.48389231_48389232delinsCG , CM000672.1:g.48389231_48389232delinsCG | GRCh37 |
| NC_000010.9:g.48009237_48009238delinsCG | NCBI36 |
| NG_029718.1:g.6760_6761delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1646_1647delinsCG MANE Select | ENSP00000463151.1:p.Ala549= | |
| ENST00000584701.1:c.1646_1647delinsCG | ENSP00000463151.1:p.Ala549= | |
| NM_002900.2:c.1646_1647delinsCG | NP_002891.1:p.Ala549= | |
| NM_002900.3:c.1646_1647delinsCG MANE Select | NP_002891.1:p.Ala549= |