Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652146_52652147delinsGC , CM000674.2:g.52652146_52652147delinsGC | GRCh38 |
| NC_000012.11:g.53045930_53045931delinsGC , CM000674.1:g.53045930_53045931delinsGC | GRCh37 |
| NC_000012.10:g.51332197_51332198delinsGC | NCBI36 |
| NG_008296.1:g.5029_5030delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.-5_-4delinsGC MANE Select | ENSP00000310861.3:n.-5_-4delinsGC | |
| ENST00000309680.3:c.-5_-4delinsGC | ENSP00000310861.3:n.-5_-4delinsGC | |
| NM_000423.2:c.-5_-4delinsGC | NP_000414.2:n.-5_-4delinsGC | |
| NM_000423.3:c.-5_-4delinsGC MANE Select | NP_000414.2:n.-5_-4delinsGC |