Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041494_94041495insACT , CM000663.2:g.94041494_94041495insACT | GRCh38 |
| NC_000001.10:g.94507050_94507051insACT , CM000663.1:g.94507050_94507051insACT | GRCh37 |
| NC_000001.9:g.94279638_94279639insACT | NCBI36 |
| NG_009073.1:g.84655_84656insAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-93_3329-92insAGT MANE Select | ENSP00000359245.3:n.3329-93_3329-92insAGT | |
| ENST00000370225.3:c.3329-93_3329-92insAGT | ENSP00000359245.3:n.3329-93_3329-92insAGT | |
| ENST00000536513.5:c.-64-1406_-64-1405insAGT | ENSP00000439707.2:n.-64-1406_-64-1405insAGT | |
| NM_000350.2:c.3329-93_3329-92insAGT | NP_000341.2:n.3329-93_3329-92insAGT | |
| NM_000350.3:c.3329-93_3329-92insAGT MANE Select | NP_000341.2:n.3329-93_3329-92insAGT |