Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45547453dup , CM000682.2:g.45547453dup | GRCh38 |
| NC_000020.10:g.44176092dup , CM000682.1:g.44176092dup | GRCh37 |
| NC_000020.9:g.43609506dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651288.1:c.-92dup (EPPIN-WFDC6) | ENSP00000498632.1:n.-92dup | |
| ENST00000409554.1:c.-92dup (EPPIN) | ENSP00000387153.1:n.-92dup |