Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340208_146340211delinsGAGA , CM000667.2:g.146340208_146340211delinsGAGA | GRCh38 |
| NC_000005.9:g.145719771_145719774delinsGAGA , CM000667.1:g.145719771_145719774delinsGAGA | GRCh37 |
| NC_000005.8:g.145699964_145699967delinsGAGA | NCBI36 |
| NG_011885.1:g.6185_6188delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.781_784delinsGAGA MANE Select | ENSP00000495718.1:p.Glu261= | |
| ENST00000230732.4:c.781_784delinsGAGA | ENSP00000230732.4:p.Glu261= | |
| NM_002700.2:c.781_784delinsGAGA | NP_002691.1:p.Glu261= | |
| NM_002700.3:c.781_784delinsGAGA MANE Select | NP_002691.1:p.Glu261= |