Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94768997_94768998delinsGG , CM000676.2:g.94768997_94768998delinsGG | GRCh38 |
| NC_000014.8:g.95235334_95235335delinsGG , CM000676.1:g.95235334_95235335delinsGG | GRCh37 |
| NC_000014.7:g.94305087_94305088delinsGG | NCBI36 |
| NG_034111.1:g.6165_6166delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.575_576delinsCC MANE Select | NP_776248.1:p.Gln192Pro |
| ENST00000238558.5:c.575_576delinsCC MANE Select | ENSP00000238558.3:p.Gln192Pro |
| NM_173849.2:c.575_576delinsCC | NP_776248.1:p.Gln192Pro |
| ENST00000238558.4:c.575_576delinsCC | ENSP00000238558.3:p.Gln192Pro |