Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621745_49621749delinsGATCA , CM000676.2:g.49621745_49621749delinsGATCA | GRCh38 |
| NC_000014.8:g.50088463_50088467delinsGATCA , CM000676.1:g.50088463_50088467delinsGATCA | GRCh37 |
| NC_000014.7:g.49158213_49158217delinsGATCA | NCBI36 |
| NG_008920.1:g.5975_5979delinsGATCA | |
| NG_033054.1:g.3883_3887delinsTGATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.477_481delinsGATCA MANE Select | ENSP00000307423.2:p.Glu159= | |
| ENST00000305386.3:c.477_481delinsGATCA | ENSP00000307423.2:p.Glu159= | |
| NM_002408.3:c.477_481delinsGATCA | NP_002399.1:p.Glu159= | |
| NM_002408.4:c.477_481delinsGATCA MANE Select | NP_002399.1:p.Glu159= |