Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646934_68646936delinsCAG , CM000666.2:g.68646934_68646936delinsCAG | GRCh38 |
| NC_000004.11:g.69512652_69512654delinsCAG , CM000666.1:g.69512652_69512654delinsCAG | GRCh37 |
| NC_000004.10:g.69195247_69195249delinsCAG | NCBI36 |
| NG_052676.1:g.28841_28843delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*168_*170delinsCTG MANE Select | ENSP00000341045.5:n.*168_*170delinsCTG | |
| ENST00000338206.5:c.*168_*170delinsCTG | ENSP00000341045.5:n.*168_*170delinsCTG | |
| ENST00000616841.4:c.1732+29_1732+31delinsCTG | ENSP00000482004.1:n.1732+29_1732+31delinsCTG | |
| NM_001076.3:c.*168_*170delinsCTG | NP_001067.2:n.*168_*170delinsCTG | |
| NM_001076.4:c.*168_*170delinsCTG MANE Select | NP_001067.2:n.*168_*170delinsCTG |