Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800046_24800047insGAGAT , CM000666.2:g.24800046_24800047insGAGAT | GRCh38 |
| NC_000004.11:g.24801668_24801669insGAGAT , CM000666.1:g.24801668_24801669insGAGAT | GRCh37 |
| NC_000004.10:g.24410766_24410767insGAGAT | NCBI36 |
| NG_012213.1:g.9584_9585insGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.525_526insGAGAT MANE Select | ENSP00000371554.3:p.Arg176GlufsTer? | |
| ENST00000382120.3:c.525_526insGAGAT | ENSP00000371554.3:p.Arg176GlufsTer? | |
| NM_003102.2:c.525_526insGAGAT | NP_003093.2:p.Arg176GlufsTer? | |
| XR_427488.1:n.715_716insGAGAT | ||
| NM_003102.3:c.525_526insGAGAT | NP_003093.2:p.Arg176GlufsTer? | |
| NM_003102.4:c.525_526insGAGAT MANE Select | NP_003093.2:p.Arg176GlufsTer? |