Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264458_109264459insA , CM000663.2:g.109264458_109264459insA | GRCh38 |
| NC_000001.10:g.109807080_109807081insA , CM000663.1:g.109807080_109807081insA | GRCh37 |
| NC_000001.9:g.109608603_109608604insA | NCBI36 |
| NG_052669.1:g.19754_19755insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5294_5295insA MANE Select | ENSP00000271332.3:p.Arg1766AlafsTer10 | |
| ENST00000271332.3:c.5294_5295insA | ENSP00000271332.3:p.Arg1766AlafsTer10 | |
| NM_001408.2:c.5294_5295insA | NP_001399.1:p.Arg1766AlafsTer10 | |
| XM_005270580.3:c.5294_5295insA | XP_005270637.1:p.Arg1766AlafsTer10 | |
| NM_001408.3:c.5294_5295insA MANE Select | NP_001399.1:p.Arg1766AlafsTer10 |