Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045296_114045298delinsGGG , CM000672.2:g.114045296_114045298delinsGGG | GRCh38 |
| NC_000010.10:g.115805055_115805057delinsGGG , CM000672.1:g.115805055_115805057delinsGGG | GRCh37 |
| NC_000010.9:g.115795045_115795047delinsGGG | NCBI36 |
| NG_012187.1:g.6250_6252delinsGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1164_1166delinsGGG MANE Select | ENSP00000358301.2:p.Gln388= | |
| ENST00000369295.3:c.1164_1166delinsGGG | ENSP00000358301.2:p.Gln388= | |
| NM_000684.2:c.1164_1166delinsGGG | NP_000675.1:p.Gln388= | |
| NM_000684.3:c.1164_1166delinsGGG MANE Select | NP_000675.1:p.Gln388= |