Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651990_52651999delinsCCCGCCACCA , CM000674.2:g.52651990_52651999delinsCCCGCCACCA | GRCh38 |
| NC_000012.11:g.53045774_53045783delinsCCCGCCACCA , CM000674.1:g.53045774_53045783delinsCCCGCCACCA | GRCh37 |
| NC_000012.10:g.51332041_51332050delinsCCCGCCACCA | NCBI36 |
| NG_008296.1:g.5177_5186delinsTGGTGGCGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.144_153delinsTGGTGGCGGG MANE Select | ENSP00000310861.3:p.Gly48= | |
| ENST00000309680.3:c.144_153delinsTGGTGGCGGG | ENSP00000310861.3:p.Gly48= | |
| NM_000423.2:c.144_153delinsTGGTGGCGGG | NP_000414.2:p.Gly48= | |
| NM_000423.3:c.144_153delinsTGGTGGCGGG MANE Select | NP_000414.2:p.Gly48= |