Canonical Allele Identifier:
CA1069047648
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559452_144559458dup , CM000666.2:g.144559452_144559458dup | GRCh38 |
| NC_000004.11:g.145480604_145480610dup , CM000666.1:g.145480604_145480610dup | GRCh37 |
| NC_000004.10:g.145700054_145700060dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-143480_328-143474dup | ENSP00000497507.1:n.328-143480_328-143474dup | |
| XR_939272.1:n.178+2526_178+2532dup | ||
| XR_939273.1:n.178+2526_178+2532dup | ||
| XR_939272.2:n.522+2526_522+2532dup | ||
| XR_939273.2:n.522+2526_522+2532dup |