Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1613232_1613233insAGA , CM000668.2:g.1613232_1613233insAGA | GRCh38 |
| NC_000006.11:g.1613467_1613468insAGA , CM000668.1:g.1613467_1613468insAGA | GRCh37 |
| NC_000006.10:g.1558466_1558467insAGA | NCBI36 |
| NG_009368.1:g.7787_7788insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*1125_*1126insAGA MANE Select | ENSP00000493906.1:n.*1125_*1126insAGA | |
| ENST00000380874.3:c.*1125_*1126insAGA | ENSP00000370256.2:n.*1125_*1126insAGA | |
| NM_001453.2:c.2787_2788insAGA | NP_001444.2:n.2787_2788insAGA | |
| NM_001453.3:c.*1125_*1126insAGA MANE Select | NP_001444.2:n.*1125_*1126insAGA |