Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998592_216998595delinsCCAG , CM000664.2:g.216998592_216998595delinsCCAG | GRCh38 |
| NC_000002.11:g.217863315_217863318delinsCCAG , CM000664.1:g.217863315_217863318delinsCCAG | GRCh37 |
| NC_000002.10:g.217571560_217571563delinsCCAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4574_299+4577delinsCCAG | ||
| XR_923883.1:n.294+4574_294+4577delinsCCAG | ||
| XR_923885.1:n.862+4574_862+4577delinsCCAG | ||
| XR_923886.1:n.300-2455_300-2452delinsCCAG | ||
| XR_923887.1:n.299+4574_299+4577delinsCCAG | ||
| XR_001739169.1:n.11844+4574_11844+4577delinsCCAG | ||
| XR_001739170.2:n.8480+4574_8480+4577delinsCCAG | ||
| XR_001739171.2:n.8347+4574_8347+4577delinsCCAG |