Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013204_25013205delinsCG , CM000685.2:g.25013204_25013205delinsCG | GRCh38 |
| NC_000023.10:g.25031321_25031322delinsCG , CM000685.1:g.25031321_25031322delinsCG | GRCh37 |
| NC_000023.9:g.24941242_24941243delinsCG | NCBI36 |
| NG_008281.1:g.7744_7745delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.790_791delinsCG MANE Select | ENSP00000368332.4:p.Arg264= | |
| ENST00000379044.4:c.790_791delinsCG | ENSP00000368332.4:p.Arg264= | |
| NM_139058.2:c.790_791delinsCG | NP_620689.1:p.Arg264= | |
| NM_139058.3:c.790_791delinsCG MANE Select | NP_620689.1:p.Arg264= |