Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646748_68646750dup , CM000666.2:g.68646748_68646750dup | GRCh38 |
| NC_000004.11:g.69512466_69512468dup , CM000666.1:g.69512466_69512468dup | GRCh37 |
| NC_000004.10:g.69195061_69195063dup | NCBI36 |
| NG_052676.1:g.29031_29033dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*358_*360dup MANE Select | ENSP00000341045.5:n.*358_*360dup | |
| ENST00000338206.5:c.*358_*360dup | ENSP00000341045.5:n.*358_*360dup | |
| ENST00000616841.4:c.1732+219_1732+221dup | ENSP00000482004.1:n.1732+219_1732+221dup | |
| NM_001076.3:c.*358_*360dup | NP_001067.2:n.*358_*360dup | |
| NM_001076.4:c.*358_*360dup MANE Select | NP_001067.2:n.*358_*360dup |