Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041477_94041478insAC , CM000663.2:g.94041477_94041478insAC | GRCh38 |
| NC_000001.10:g.94507033_94507034insAC , CM000663.1:g.94507033_94507034insAC | GRCh37 |
| NC_000001.9:g.94279621_94279622insAC | NCBI36 |
| NG_009073.1:g.84672_84673insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-76_3329-75insGT MANE Select | ENSP00000359245.3:n.3329-76_3329-75insGT | |
| ENST00000370225.3:c.3329-76_3329-75insGT | ENSP00000359245.3:n.3329-76_3329-75insGT | |
| ENST00000536513.5:c.-64-1389_-64-1388insGT | ENSP00000439707.2:n.-64-1389_-64-1388insGT | |
| NM_000350.2:c.3329-76_3329-75insGT | NP_000341.2:n.3329-76_3329-75insGT | |
| NM_000350.3:c.3329-76_3329-75insGT MANE Select | NP_000341.2:n.3329-76_3329-75insGT |