Canonical Allele Identifier:
CA2520482979
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707926_8707927insGTTTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.8707926_8707927insGTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000024.9:g.8575967_8575968insGTTTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.8575967_8575968insGTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000024.8:g.8635967_8635968insGTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8894_139+8895insGTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000485446.1:n.139+8894_139+8895insG... | |
| ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAAACAAAAAAAAAAA | ENSP00000485106.1:n.-57+40800_-57+40801in... |