Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532873_129532874insAG , CM000665.2:g.129532873_129532874insAG | GRCh38 |
| NC_000003.11:g.129251716_129251717insAG , CM000665.1:g.129251716_129251717insAG | GRCh37 |
| NC_000003.10:g.130734406_130734407insAG | NCBI36 |
| NG_009115.1:g.9235_9236insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.936+101_936+102insAG MANE Select | ENSP00000296271.3:n.936+101_936+102insAG | |
| ENST00000296271.3:c.936+101_936+102insAG | ENSP00000296271.3:n.936+101_936+102insAG | |
| NM_000539.3:c.936+101_936+102insAG MANE Select | NP_000530.1:n.936+101_936+102insAG |