Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673842_10673843insAGG , CM000682.2:g.10673842_10673843insAGG | GRCh38 |
| NC_000020.10:g.10654490_10654491insAGG , CM000682.1:g.10654490_10654491insAGG | GRCh37 |
| NC_000020.9:g.10602490_10602491insAGG | NCBI36 |
| NG_007496.1:g.5204_5205insCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-313_-312insCCT MANE Select | ENSP00000254958.4:n.-313_-312insCCT | |
| ENST00000254958.9:c.-313_-312insCCT | ENSP00000254958.4:n.-313_-312insCCT | |
| NM_000214.2:c.-313_-312insCCT | NP_000205.1:n.-313_-312insCCT | |
| NM_000214.3:c.-313_-312insCCT MANE Select | NP_000205.1:n.-313_-312insCCT |