Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673839_10673840insACA , CM000682.2:g.10673839_10673840insACA | GRCh38 |
| NC_000020.10:g.10654487_10654488insACA , CM000682.1:g.10654487_10654488insACA | GRCh37 |
| NC_000020.9:g.10602487_10602488insACA | NCBI36 |
| NG_007496.1:g.5207_5208insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-310_-309insTGT MANE Select | ENSP00000254958.4:n.-310_-309insTGT | |
| ENST00000254958.9:c.-310_-309insTGT | ENSP00000254958.4:n.-310_-309insTGT | |
| NM_000214.2:c.-310_-309insTGT | NP_000205.1:n.-310_-309insTGT | |
| NM_000214.3:c.-310_-309insTGT MANE Select | NP_000205.1:n.-310_-309insTGT |