Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776857_89776860dup , CM000677.2:g.89776857_89776860dup | GRCh38 |
| NC_000015.9:g.90320088_90320091dup , CM000677.1:g.90320088_90320091dup | GRCh37 |
| NC_000015.8:g.88121092_88121095dup | NCBI36 |
| NG_008608.1:g.5500_5503dup | |
| NG_008608.2:g.21267_21270dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.500_503dup MANE Select | ENSP00000342392.3:p.Gly169ProfsTer? | |
| ENST00000341735.3:c.500_503dup | ENSP00000342392.3:p.Gly169ProfsTer? | |
| ENST00000558723.1:n.39-1208_39-1205dup | ||
| ENST00000560219.2:c.31-1208_31-1205dup | ENSP00000452998.1:n.31-1208_31-1205dup | |
| NM_001039958.1:c.500_503dup | NP_001035047.1:p.Gly169ProfsTer? | |
| NM_001039958.2:c.500_503dup MANE Select | NP_001035047.1:p.Gly169ProfsTer? |