Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13787195dup , CM000686.2:g.13787195dup | GRCh38 |
| NC_000024.9:g.15899075dup , CM000686.1:g.15899075dup | GRCh37 |
| NC_000024.8:g.14408469dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652544.1:n.684+32406dup | ||
| ENST00000430079.5:n.430-3724dup | ||
| ENST00000460561.1:n.213-3724dup | ||
| ENST00000472227.5:n.351-3724dup |