Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866636_102866674dup , CM000674.2:g.102866636_102866674dup | GRCh38 |
| NC_000012.11:g.103260414_103260452dup , CM000674.1:g.103260414_103260452dup | GRCh37 |
| NC_000012.10:g.101784544_101784582dup | NCBI36 |
| NG_008690.1:g.55929_55967dup | |
| NG_008690.2:g.96737_96775dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.1:c.442-11_469dup | |
| NM_000277.2:c.442-11_469dup | |
| NM_000277.3:c.442-11_469dup | |
| NM_001354304.1:c.442-11_469dup | |
| NM_001354304.2:c.442-11_469dup | |
| ENST00000307000.7:c.427-11_454dup | |
| ENST00000549111.5:n.538-11_565dup | |
| ENST00000551988.5:n.530+10788_530+10826dup | |
| ENST00000553106.5:c.442-11_469dup | |
| ENST00000553106.6:c.442-11_469dup | |
| XM_011538422.1:c.442-11_469dup | |
| XM_017019370.2:c.442-11_469dup |