Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882047_160882048delinsGC , CM000663.2:g.160882047_160882048delinsGC | GRCh38 |
| NC_000001.10:g.160851837_160851838delinsGC , CM000663.1:g.160851837_160851838delinsGC | GRCh37 |
| NC_000001.9:g.159118461_159118462delinsGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.314_315delinsGC MANE Select | ENSP00000323587.3:p.Gly105= | |
| ENST00000326245.3:c.314_315delinsGC | ENSP00000323587.3:p.Gly105= | |
| ENST00000464077.1:n.248_249delinsGC | ||
| NM_017625.2:c.314_315delinsGC | NP_060095.2:p.Gly105= | |
| NM_017625.3:c.314_315delinsGC MANE Select | NP_060095.2:p.Gly105= |