Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887450_72887451insGGGCGGGCTG , CM000664.2:g.72887450_72887451insGGGCGGGCTG | GRCh38 |
| NC_000002.11:g.73114579_73114580insGGGCGGGCTG , CM000664.1:g.73114579_73114580insGGGCGGGCTG | GRCh37 |
| NC_000002.10:g.72968087_72968088insGGGCGGGCTG | NCBI36 |
| NG_008234.1:g.5068_5069insGGGCGGGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.18_19insGGGCGGGCTG MANE Select | ENSP00000234454.5:p.Arg7GlyfsTer? | |
| ENST00000234454.5:c.18_19insGGGCGGGCTG | ENSP00000234454.5:p.Arg7GlyfsTer? | |
| ENST00000498749.1:n.69_70insGGGCGGGCTG | ||
| NM_003124.4:c.18_19insGGGCGGGCTG | NP_003115.1:p.Arg7GlyfsTer? | |
| NM_003124.5:c.18_19insGGGCGGGCTG MANE Select | NP_003115.1:p.Arg7GlyfsTer? |