Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041476_94041477insAC , CM000663.2:g.94041476_94041477insAC | GRCh38 |
| NC_000001.10:g.94507032_94507033insAC , CM000663.1:g.94507032_94507033insAC | GRCh37 |
| NC_000001.9:g.94279620_94279621insAC | NCBI36 |
| NG_009073.1:g.84673_84674insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-75_3329-74insGT MANE Select | ENSP00000359245.3:n.3329-75_3329-74insGT | |
| ENST00000370225.3:c.3329-75_3329-74insGT | ENSP00000359245.3:n.3329-75_3329-74insGT | |
| ENST00000536513.5:c.-64-1388_-64-1387insGT | ENSP00000439707.2:n.-64-1388_-64-1387insGT | |
| NM_000350.2:c.3329-75_3329-74insGT | NP_000341.2:n.3329-75_3329-74insGT | |
| NM_000350.3:c.3329-75_3329-74insGT MANE Select | NP_000341.2:n.3329-75_3329-74insGT |