Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673564_10673565insAGT , CM000682.2:g.10673564_10673565insAGT | GRCh38 |
| NC_000020.10:g.10654212_10654213insAGT , CM000682.1:g.10654212_10654213insAGT | GRCh37 |
| NC_000020.9:g.10602212_10602213insAGT | NCBI36 |
| NG_007496.1:g.5482_5483insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-35_-34insACT MANE Select | ENSP00000254958.4:n.-35_-34insACT | |
| ENST00000254958.9:c.-35_-34insACT | ENSP00000254958.4:n.-35_-34insACT | |
| NM_000214.2:c.-35_-34insACT | NP_000205.1:n.-35_-34insACT | |
| NM_000214.3:c.-35_-34insACT MANE Select | NP_000205.1:n.-35_-34insACT |