Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529240_129529241insGAG , CM000665.2:g.129529240_129529241insGAG | GRCh38 |
| NC_000003.11:g.129248083_129248084insGAG , CM000665.1:g.129248083_129248084insGAG | GRCh37 |
| NC_000003.10:g.130730773_130730774insGAG | NCBI36 |
| NG_009115.1:g.5602_5603insGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+146_361+147insGAG MANE Select | ENSP00000296271.3:n.361+146_361+147insGAG | |
| ENST00000296271.3:c.361+146_361+147insGAG | ENSP00000296271.3:n.361+146_361+147insGAG | |
| NM_000539.3:c.361+146_361+147insGAG MANE Select | NP_000530.1:n.361+146_361+147insGAG |