Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532863_129532864insAGA , CM000665.2:g.129532863_129532864insAGA | GRCh38 |
| NC_000003.11:g.129251706_129251707insAGA , CM000665.1:g.129251706_129251707insAGA | GRCh37 |
| NC_000003.10:g.130734396_130734397insAGA | NCBI36 |
| NG_009115.1:g.9225_9226insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.936+91_936+92insAGA MANE Select | ENSP00000296271.3:n.936+91_936+92insAGA | |
| ENST00000296271.3:c.936+91_936+92insAGA | ENSP00000296271.3:n.936+91_936+92insAGA | |
| NM_000539.3:c.936+91_936+92insAGA MANE Select | NP_000530.1:n.936+91_936+92insAGA |