Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.104856114_104856115delinsCT , CM000664.2:g.104856114_104856115delinsCT | GRCh38 |
| NC_000002.11:g.105472572_105472573delinsCT , CM000664.1:g.105472572_105472573delinsCT | GRCh37 |
| NC_000002.10:g.104839004_104839005delinsCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361360.4:c.604_605delinsCT MANE Select | ENSP00000355001.2:p.Ala202Leu | |
| ENST00000674056.1:c.604_605delinsCT | ENSP00000501036.1:p.Ala202Leu | |
| ENST00000361360.2:c.604_605delinsCT | ENSP00000355001.2:p.Ala202Leu | |
| NM_006236.1:c.604_605delinsCT | NP_006227.1:p.Ala202Leu | |
| NM_006236.2:c.604_605delinsCT | NP_006227.1:p.Ala202Leu | |
| NM_006236.3:c.604_605delinsCT MANE Select | NP_006227.1:p.Ala202Leu |