Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20004649_20004651dup , CM000686.2:g.20004649_20004651dup | GRCh38 |
| NC_000024.9:g.22166535_22166537dup , CM000686.1:g.22166535_22166537dup | GRCh37 |
| NC_000024.8:g.20625923_20625925dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450781.1:n.208+1100_208+1102dup |