Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646762_68646765delinsTAAG , CM000666.2:g.68646762_68646765delinsTAAG | GRCh38 |
| NC_000004.11:g.69512480_69512483delinsTAAG , CM000666.1:g.69512480_69512483delinsTAAG | GRCh37 |
| NC_000004.10:g.69195075_69195078delinsTAAG | NCBI36 |
| NG_052676.1:g.29012_29015delinsCTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*339_*342delinsCTTA MANE Select | ENSP00000341045.5:n.*339_*342delinsCTTA | |
| ENST00000338206.5:c.*339_*342delinsCTTA | ENSP00000341045.5:n.*339_*342delinsCTTA | |
| ENST00000616841.4:c.1732+200_1732+203delinsCTTA | ENSP00000482004.1:n.1732+200_1732+203delinsCTTA | |
| NM_001076.3:c.*339_*342delinsCTTA | NP_001067.2:n.*339_*342delinsCTTA | |
| NM_001076.4:c.*339_*342delinsCTTA MANE Select | NP_001067.2:n.*339_*342delinsCTTA |