Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32444666_32444670delinsTAGAG , CM000668.2:g.32444666_32444670delinsTAGAG | GRCh38 |
| NC_000006.11:g.32412443_32412447delinsTAGAG , CM000668.1:g.32412443_32412447delinsTAGAG | GRCh37 |
| NC_000006.10:g.32520421_32520425delinsTAGAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.*26_*30delinsTAGAG MANE Select | ENSP00000378786.2:n.*26_*30delinsTAGAG | |
| ENST00000374982.5:c.*26_*30delinsTAGAG | ENSP00000364121.5:n.*26_*30delinsTAGAG | |
| ENST00000395388.6:c.*26_*30delinsTAGAG | ENSP00000378786.2:n.*26_*30delinsTAGAG | |
| NM_019111.4:c.*26_*30delinsTAGAG | NP_061984.2:n.*26_*30delinsTAGAG | |
| NM_019111.5:c.*26_*30delinsTAGAG MANE Select | NP_061984.2:n.*26_*30delinsTAGAG |