Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705553_81705555delinsCTT , CM000665.2:g.81705553_81705555delinsCTT | GRCh38 |
| NC_000003.11:g.81754704_81754706delinsCTT , CM000665.1:g.81754704_81754706delinsCTT | GRCh37 |
| NC_000003.10:g.81837394_81837396delinsCTT | NCBI36 |
| NG_011810.1:g.61246_61248delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.202_204delinsAAG MANE Select | ENSP00000410833.2:p.Lys68= | |
| ENST00000429644.6:c.202_204delinsAAG | ENSP00000410833.2:p.Lys68= | |
| ENST00000489715.1:c.79_81delinsAAG | ENSP00000419638.1:p.Lys27= | |
| NM_000158.3:c.202_204delinsAAG | NP_000149.3:p.Lys68= | |
| NM_000158.4:c.202_204delinsAAG MANE Select | NP_000149.4:p.Lys68= |