Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432180dup , CM000663.2:g.229432180dup | GRCh38 |
| NC_000001.10:g.229567927dup , CM000663.1:g.229567927dup | GRCh37 |
| NC_000001.9:g.227634550dup | NCBI36 |
| NG_006672.1:g.6917dup , LRG_429:g.6917dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.622dup | ENSP00000355644.4:p.Arg208ProfsTer? | |
| ENST00000684723.1:c.487dup | ENSP00000508084.1:p.Arg163ProfsTer? | |
| ENST00000366683.3:c.479+227dup | ENSP00000355644.3:n.479+227dup | |
| ENST00000366684.7:c.622dup MANE Select | ENSP00000355645.3:p.Arg208ProfsTer? | |
| NM_001100.3:c.622dup , LRG_429t1:c.622dup | NP_001091.1:p.Arg208ProfsTer? | |
| NM_001100.4:c.622dup MANE Select | NP_001091.1:p.Arg208ProfsTer? |