Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493574_74493577delinsCCGG , CM000676.2:g.74493574_74493577delinsCCGG | GRCh38 |
| NC_000014.8:g.74960277_74960280delinsCCGG , CM000676.1:g.74960277_74960280delinsCCGG | GRCh37 |
| NC_000014.7:g.74030030_74030033delinsCCGG | NCBI36 |
| NG_007117.1:g.4805_4808delinsCCGG | |
| NG_033074.1:g.4855_4858delinsCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-71_-68delinsCCGG | ENSP00000450887.1:n.-71_-68delinsCCGG | |
| ENST00000556009.5:c.147+454_147+457delinsCCGG |