Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041433_94041434insAT , CM000663.2:g.94041433_94041434insAT | GRCh38 |
| NC_000001.10:g.94506989_94506990insAT , CM000663.1:g.94506989_94506990insAT | GRCh37 |
| NC_000001.9:g.94279577_94279578insAT | NCBI36 |
| NG_009073.1:g.84716_84717insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-32_3329-31insAT MANE Select | ENSP00000359245.3:n.3329-32_3329-31insAT | |
| ENST00000370225.3:c.3329-32_3329-31insAT | ENSP00000359245.3:n.3329-32_3329-31insAT | |
| ENST00000536513.5:c.-64-1345_-64-1344insAT | ENSP00000439707.2:n.-64-1345_-64-1344insAT | |
| NM_000350.2:c.3329-32_3329-31insAT | NP_000341.2:n.3329-32_3329-31insAT | |
| NM_000350.3:c.3329-32_3329-31insAT MANE Select | NP_000341.2:n.3329-32_3329-31insAT |