Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53824105_53824108delinsCCTT , CM000676.2:g.53824105_53824108delinsCCTT | GRCh38 |
| NC_000014.8:g.54290823_54290826delinsCCTT , CM000676.1:g.54290823_54290826delinsCCTT | GRCh37 |
| NC_000014.7:g.53360573_53360576delinsCCTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25614_392+25617delinsAAGG | ||
| XR_943873.1:n.299+25707_299+25710delinsAAGG | ||
| XR_943874.1:n.392+25614_392+25617delinsAAGG | ||
| XR_943875.1:n.392+25614_392+25617delinsAAGG | ||
| XR_943878.1:n.330-50399_330-50396delinsCCTT | ||
| XR_001750967.2:n.416+25614_416+25617delinsAAGG | ||
| XR_001750968.1:n.324+25707_324+25710delinsAAGG | ||
| XR_943872.3:n.415+25614_415+25617delinsAAGG | ||
| XR_943873.2:n.322+25707_322+25710delinsAAGG | ||
| XR_943874.3:n.419+25614_419+25617delinsAAGG |