Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852810_102855313dup , CM000674.2:g.102852810_102855313dup | GRCh38 |
| NC_000012.11:g.103246588_103249091dup , CM000674.1:g.103246588_103249091dup | GRCh37 |
| NC_000012.10:g.101770718_101773221dup | NCBI36 |
| NG_008690.2:g.108098_110601dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.529_842+5dup | |
| NM_000277.3:c.529_842+5dup | |
| NM_001354304.1:c.529_842+5dup | |
| NM_001354304.2:c.529_842+5dup | |
| ENST00000307000.7:c.514_827+5dup | |
| ENST00000553106.5:c.529_842+5dup | |
| ENST00000553106.6:c.529_842+5dup | |
| XM_011538422.1:c.529_842+5dup |