Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122758_72122769delinsGGCGGAGCGGCT , CM000679.2:g.72122758_72122769delinsGGCGGAGCGGCT | GRCh38 |
| NC_000017.10:g.70118899_70118910delinsGGCGGAGCGGCT , CM000679.1:g.70118899_70118910delinsGGCGGAGCGGCT | GRCh37 |
| NC_000017.9:g.67630494_67630505delinsGGCGGAGCGGCT | NCBI36 |
| NG_012490.1:g.6739_6750delinsGGCGGAGCGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.471_482delinsGGCGGAGCGGCT MANE Select | ENSP00000245479.2:p.Glu157= | |
| ENST00000245479.2:c.471_482delinsGGCGGAGCGGCT | ENSP00000245479.2:p.Glu157= | |
| NM_000346.3:c.471_482delinsGGCGGAGCGGCT | NP_000337.1:p.Glu157= | |
| NM_000346.4:c.471_482delinsGGCGGAGCGGCT MANE Select | NP_000337.1:p.Glu157= |