Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734120_4734121delinsCG , CM000679.2:g.4734120_4734121delinsCG | GRCh38 |
| NC_000017.10:g.4637415_4637416delinsCG , CM000679.1:g.4637415_4637416delinsCG | GRCh37 |
| NC_000017.9:g.4584164_4584165delinsCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*382_*383delinsCG MANE Select | ENSP00000293778.7:n.*382_*383delinsCG | |
| ENST00000293778.10:c.*382_*383delinsCG | ENSP00000293778.6:n.*382_*383delinsCG | |
| ENST00000576153.5:n.938_939delinsCG | ||
| NM_022059.3:c.*382_*383delinsCG | NP_071342.2:n.*382_*383delinsCG | |
| NM_022059.4:c.*382_*383delinsCG | NP_071342.2:n.*382_*383delinsCG | |
| NM_001386809.1:c.*382_*383delinsCG MANE Select | NP_001373738.1:n.*382_*383delinsCG |