Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73193020_73193021dup , CM000679.2:g.73193020_73193021dup | GRCh38 |
| NC_000017.10:g.71189159_71189160dup , CM000679.1:g.71189159_71189160dup | GRCh37 |
| NC_000017.9:g.68700754_68700755dup | NCBI36 |
| NG_008971.1:g.4987_4988dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000299886.8:c.-50_-49dup | ENSP00000299886.4:n.-50_-49dup |
| ENST00000618996.4:c.-50_-49dup | ENSP00000479450.1:n.-50_-49dup |