Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20004674_20004678dup , CM000686.2:g.20004674_20004678dup | GRCh38 |
| NC_000024.9:g.22166560_22166564dup , CM000686.1:g.22166560_22166564dup | GRCh37 |
| NC_000024.8:g.20625948_20625952dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450781.1:n.208+1086_208+1090dup |