Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041472_94041473insACA , CM000663.2:g.94041472_94041473insACA | GRCh38 |
| NC_000001.10:g.94507028_94507029insACA , CM000663.1:g.94507028_94507029insACA | GRCh37 |
| NC_000001.9:g.94279616_94279617insACA | NCBI36 |
| NG_009073.1:g.84677_84678insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-71_3329-70insTGT MANE Select | ENSP00000359245.3:n.3329-71_3329-70insTGT | |
| ENST00000370225.3:c.3329-71_3329-70insTGT | ENSP00000359245.3:n.3329-71_3329-70insTGT | |
| ENST00000536513.5:c.-64-1384_-64-1383insTGT | ENSP00000439707.2:n.-64-1384_-64-1383insTGT | |
| NM_000350.2:c.3329-71_3329-70insTGT | NP_000341.2:n.3329-71_3329-70insTGT | |
| NM_000350.3:c.3329-71_3329-70insTGT MANE Select | NP_000341.2:n.3329-71_3329-70insTGT |