Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658419_10658421delinsGAC , CM000682.2:g.10658419_10658421delinsGAC | GRCh38 |
| NC_000020.10:g.10639067_10639069delinsGAC , CM000682.1:g.10639067_10639069delinsGAC | GRCh37 |
| NC_000020.9:g.10587067_10587069delinsGAC | NCBI36 |
| NG_007496.1:g.20626_20628delinsGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+47_694+49delinsGTC MANE Select | ENSP00000254958.4:n.694+47_694+49delinsGTC | |
| ENST00000254958.9:c.694+47_694+49delinsGTC | ENSP00000254958.4:n.694+47_694+49delinsGTC | |
| ENST00000423891.6:n.560+47_560+49delinsGTC | ||
| NM_000214.2:c.694+47_694+49delinsGTC | NP_000205.1:n.694+47_694+49delinsGTC | |
| NM_000214.3:c.694+47_694+49delinsGTC MANE Select | NP_000205.1:n.694+47_694+49delinsGTC |