Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646743_68646744delinsCT , CM000666.2:g.68646743_68646744delinsCT | GRCh38 |
| NC_000004.11:g.69512461_69512462delinsCT , CM000666.1:g.69512461_69512462delinsCT | GRCh37 |
| NC_000004.10:g.69195056_69195057delinsCT | NCBI36 |
| NG_052676.1:g.29033_29034delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*360_*361delinsAG MANE Select | ENSP00000341045.5:n.*360_*361delinsAG | |
| ENST00000338206.5:c.*360_*361delinsAG | ENSP00000341045.5:n.*360_*361delinsAG | |
| ENST00000616841.4:c.1732+221_1732+222delinsAG | ENSP00000482004.1:n.1732+221_1732+222delinsAG | |
| NM_001076.3:c.*360_*361delinsAG | NP_001067.2:n.*360_*361delinsAG | |
| NM_001076.4:c.*360_*361delinsAG MANE Select | NP_001067.2:n.*360_*361delinsAG |