Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432316dup , CM000663.2:g.229432316dup | GRCh38 |
| NC_000001.10:g.229568063dup , CM000663.1:g.229568063dup | GRCh37 |
| NC_000001.9:g.227634686dup | NCBI36 |
| NG_006672.1:g.6782dup , LRG_429:g.6782dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.571dup | ENSP00000355644.4:p.Leu191ProfsTer7 | |
| ENST00000684723.1:c.436dup | ENSP00000508084.1:p.Leu146ProfsTer7 | |
| ENST00000366683.3:c.479+92dup | ENSP00000355644.3:n.479+92dup | |
| ENST00000366684.7:c.571dup MANE Select | ENSP00000355645.3:p.Leu191ProfsTer7 | |
| NM_001100.3:c.571dup , LRG_429t1:c.571dup | NP_001091.1:p.Leu191ProfsTer7 | |
| NM_001100.4:c.571dup MANE Select | NP_001091.1:p.Leu191ProfsTer7 |