Canonical Allele Identifier:
CA2501011613
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707920_8707921insCTTTTTTTTTTTTTTTT , CM000686.2:g.8707920_8707921insCTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000024.9:g.8575961_8575962insCTTTTTTTTTTTTTTTT , CM000686.1:g.8575961_8575962insCTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000024.8:g.8635961_8635962insCTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8888_139+8889insCTTTTTTTTTTTTTTTT | ENSP00000485446.1:n.139+8888_139+8889insC... | |
| ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAAGAAAAA | ENSP00000485106.1:n.-57+40800_-57+40801in... |