Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652254_171652256delinsCCC , CM000663.2:g.171652254_171652256delinsCCC | GRCh38 |
| NC_000001.10:g.171621394_171621396delinsCCC , CM000663.1:g.171621394_171621396delinsCCC | GRCh37 |
| NC_000001.9:g.169888017_169888019delinsCCC | NCBI36 |
| NG_008859.1:g.5378_5380delinsGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.356_358delinsGGG MANE Select | ENSP00000037502.5:p.Arg119= | |
| ENST00000638471.1:c.130+226_130+228delinsGGG | ENSP00000491206.1:n.130+226_130+228delinsGGG | |
| ENST00000037502.10:c.356_358delinsGGG | ENSP00000037502.5:p.Arg119= | |
| ENST00000614688.1:c.356_358delinsGGG | ENSP00000478680.1:p.Arg119= | |
| NM_000261.1:c.356_358delinsGGG | NP_000252.1:p.Arg119= | |
| NM_000261.2:c.356_358delinsGGG MANE Select | NP_000252.1:p.Arg119= |