Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584068_41584069delinsTC , CM000679.2:g.41584068_41584069delinsTC | GRCh38 |
| NC_000017.10:g.39740320_39740321delinsTC , CM000679.1:g.39740320_39740321delinsTC | GRCh37 |
| NC_000017.9:g.36993846_36993847delinsTC | NCBI36 |
| NG_008624.1:g.7827_7828delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-148_766-147delinsGA MANE Select | ENSP00000167586.6:n.766-148_766-147delinsGA | |
| ENST00000167586.6:c.766-148_766-147delinsGA | ENSP00000167586.6:n.766-148_766-147delinsGA | |
| ENST00000476662.1:n.216-148_216-147delinsGA | ||
| NM_000526.4:c.766-148_766-147delinsGA | NP_000517.2:n.766-148_766-147delinsGA | |
| NM_000526.5:c.766-148_766-147delinsGA MANE Select | NP_000517.3:n.766-148_766-147delinsGA |