Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717803_12717804dup , CM000674.2:g.12717803_12717804dup | GRCh38 |
| NC_000012.11:g.12870737_12870738dup , CM000674.1:g.12870737_12870738dup | GRCh37 |
| NC_000012.10:g.12762004_12762005dup | NCBI36 |
| NG_016341.1:g.5436_5437dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-37_-36dup | ENSP00000507272.1:n.-37_-36dup | |
| ENST00000682620.1:n.1631-1022_1631-1021dup | ||
| ENST00000684771.1:n.585-1022_585-1021dup | ||
| ENST00000228872.9:c.-37_-36dup MANE Select | ENSP00000228872.4:n.-37_-36dup | |
| ENST00000228872.8:c.-37_-36dup | ENSP00000228872.4:n.-37_-36dup | |
| ENST00000477087.1:n.155-1022_155-1021dup | ||
| NM_004064.4:c.-37_-36dup | NP_004055.1:n.-37_-36dup | |
| NM_004064.5:c.-37_-36dup MANE Select | NP_004055.1:n.-37_-36dup |