Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852810_102855154dup , CM000674.2:g.102852810_102855154dup | GRCh38 |
| NC_000012.11:g.103246588_103248932dup , CM000674.1:g.103246588_103248932dup | GRCh37 |
| NC_000012.10:g.101770718_101773062dup | NCBI36 |
| NG_008690.2:g.108257_110601dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.688_842+5dup | |
| NM_000277.3:c.688_842+5dup | |
| NM_001354304.1:c.688_842+5dup | |
| NM_001354304.2:c.688_842+5dup | |
| ENST00000307000.7:c.673_827+5dup | |
| ENST00000553106.5:c.688_842+5dup | |
| ENST00000553106.6:c.688_842+5dup | |
| XM_011538422.1:c.688_842+5dup |