Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285479_40285480delinsGA , CM000681.2:g.40285479_40285480delinsGA | GRCh38 |
| NC_000019.9:g.40791386_40791387delinsGA , CM000681.1:g.40791386_40791387delinsGA | GRCh37 |
| NC_000019.8:g.45483226_45483227delinsGA | NCBI36 |
| NG_012038.2:g.4879_4880delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-117_-116delinsTC | ENSP00000462022.1:n.-117_-116delinsTC | |
| XM_011526620.1:c.-117_-116delinsTC | XP_011524922.1:n.-117_-116delinsTC |