Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714013_114714015delinsGGG , CM000663.2:g.114714013_114714015delinsGGG | GRCh38 |
| NC_000001.10:g.115256634_115256636delinsGGG , CM000663.1:g.115256634_115256636delinsGGG | GRCh37 |
| NC_000001.9:g.115058157_115058159delinsGGG | NCBI36 |
| NG_007572.1:g.7880_7882delinsCCC , LRG_92:g.7880_7882delinsCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-37_112-35delinsCCC MANE Select | ENSP00000358548.4:n.112-37_112-35delinsCCC | |
| ENST00000369535.4:c.112-37_112-35delinsCCC | ENSP00000358548.4:n.112-37_112-35delinsCCC | |
| NM_002524.4:c.112-37_112-35delinsCCC | NP_002515.1:n.112-37_112-35delinsCCC | |
| NM_002524.5:c.112-37_112-35delinsCCC MANE Select | NP_002515.1:n.112-37_112-35delinsCCC |