Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42649507dup , CM000684.2:g.42649507dup | GRCh38 |
| NC_000022.10:g.43045513dup , CM000684.1:g.43045513dup | GRCh37 |
| NC_000022.9:g.41375457dup | NCBI36 |
| NG_012194.1:g.4893dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000352397.9:c.-192dup | ENSP00000338461.6:n.-192dup |
| ENST00000686129.1:c.-48-12661dup | ENSP00000508623.1:n.-48-12661dup |
| ENST00000692152.1:c.-48-12661dup | ENSP00000509317.1:n.-48-12661dup |
| ENST00000693716.1:n.250-12661dup |