Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432526_229432527insC , CM000663.2:g.229432526_229432527insC | GRCh38 |
| NC_000001.10:g.229568273_229568274insC , CM000663.1:g.229568273_229568274insC | GRCh37 |
| NC_000001.9:g.227634896_227634897insC | NCBI36 |
| NG_006672.1:g.6570_6571insG , LRG_429:g.6570_6571insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.454+29_454+30insG | ENSP00000355644.4:n.454+29_454+30insG | |
| ENST00000684723.1:c.319+29_319+30insG | ENSP00000508084.1:n.319+29_319+30insG | |
| ENST00000366683.3:c.454+29_454+30insG | ENSP00000355644.3:n.454+29_454+30insG | |
| ENST00000366684.7:c.454+29_454+30insG MANE Select | ENSP00000355645.3:n.454+29_454+30insG | |
| NM_001100.3:c.454+29_454+30insG , LRG_429t1:c.454+29_454+30insG | NP_001091.1:n.454+29_454+30insG | |
| NM_001100.4:c.454+29_454+30insG MANE Select | NP_001091.1:n.454+29_454+30insG |