Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177206_177207delinsCG , CM000678.2:g.177206_177207delinsCG | GRCh38 |
| NC_000016.9:g.227205_227206delinsCG , CM000678.1:g.227205_227206delinsCG | GRCh37 |
| NC_000016.8:g.167205_167206delinsCG | NCBI36 |
| NG_000006.1:g.38069_38070delinsCG | |
| NG_059186.1:g.5556_5557delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.300+73_300+74delinsCG MANE Select | ENSP00000322421.5:n.300+73_300+74delinsCG | |
| ENST00000397797.1:c.204+73_204+74delinsCG | ENSP00000380899.1:n.204+73_204+74delinsCG | |
| ENST00000472694.1:n.436+73_436+74delinsCG | ||
| ENST00000487791.1:n.342_343delinsCG | ||
| NM_000558.4:c.300+73_300+74delinsCG | NP_000549.1:n.300+73_300+74delinsCG | |
| NM_000558.5:c.300+73_300+74delinsCG MANE Select | NP_000549.1:n.300+73_300+74delinsCG |