Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432264dup , CM000663.2:g.229432264dup | GRCh38 |
| NC_000001.10:g.229568011dup , CM000663.1:g.229568011dup | GRCh37 |
| NC_000001.9:g.227634634dup | NCBI36 |
| NG_006672.1:g.6833dup , LRG_429:g.6833dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.616+6dup | ENSP00000355644.4:n.616+6dup | |
| ENST00000684723.1:c.481+6dup | ENSP00000508084.1:n.481+6dup | |
| ENST00000366683.3:c.479+143dup | ENSP00000355644.3:n.479+143dup | |
| ENST00000366684.7:c.616+6dup MANE Select | ENSP00000355645.3:n.616+6dup | |
| NM_001100.3:c.616+6dup , LRG_429t1:c.616+6dup | NP_001091.1:n.616+6dup | |
| NM_001100.4:c.616+6dup MANE Select | NP_001091.1:n.616+6dup |