Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529216_129529217insAGA , CM000665.2:g.129529216_129529217insAGA | GRCh38 |
| NC_000003.11:g.129248059_129248060insAGA , CM000665.1:g.129248059_129248060insAGA | GRCh37 |
| NC_000003.10:g.130730749_130730750insAGA | NCBI36 |
| NG_009115.1:g.5578_5579insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+122_361+123insAGA MANE Select | ENSP00000296271.3:n.361+122_361+123insAGA | |
| ENST00000296271.3:c.361+122_361+123insAGA | ENSP00000296271.3:n.361+122_361+123insAGA | |
| NM_000539.3:c.361+122_361+123insAGA MANE Select | NP_000530.1:n.361+122_361+123insAGA |