Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852811_102855310dup , CM000674.2:g.102852811_102855310dup | GRCh38 |
| NC_000012.11:g.103246589_103249088dup , CM000674.1:g.103246589_103249088dup | GRCh37 |
| NC_000012.10:g.101770719_101773218dup | NCBI36 |
| NG_008690.2:g.108102_110601dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.533_842+5dup | |
| NM_000277.3:c.533_842+5dup | |
| NM_001354304.1:c.533_842+5dup | |
| NM_001354304.2:c.533_842+5dup | |
| ENST00000307000.7:c.518_827+5dup | |
| ENST00000553106.5:c.533_842+5dup | |
| ENST00000553106.6:c.533_842+5dup | |
| XM_011538422.1:c.533_842+5dup |