Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53823963_53823964insTCTTTTCATAT , CM000676.2:g.53823963_53823964insTCTTTTCATAT | GRCh38 |
| NC_000014.8:g.54290681_54290682insTCTTTTCATAT , CM000676.1:g.54290681_54290682insTCTTTTCATAT | GRCh37 |
| NC_000014.7:g.53360431_53360432insTCTTTTCATAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25759_392+25760insTATGAAAAGAA | ||
| XR_943873.1:n.299+25852_299+25853insTATGAAAAGAA | ||
| XR_943874.1:n.392+25759_392+25760insTATGAAAAGAA | ||
| XR_943875.1:n.392+25759_392+25760insTATGAAAAGAA | ||
| XR_943878.1:n.330-50541_330-50540insTCTTTTCATAT | ||
| XR_001750967.2:n.416+25759_416+25760insTATGAAAAGAA | ||
| XR_001750968.1:n.324+25852_324+25853insTATGAAAAGAA | ||
| XR_943872.3:n.415+25759_415+25760insTATGAAAAGAA | ||
| XR_943873.2:n.322+25852_322+25853insTATGAAAAGAA | ||
| XR_943874.3:n.419+25759_419+25760insTATGAAAAGAA |