Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584050_41584051insCT , CM000679.2:g.41584050_41584051insCT | GRCh38 |
| NC_000017.10:g.39740302_39740303insCT , CM000679.1:g.39740302_39740303insCT | GRCh37 |
| NC_000017.9:g.36993828_36993829insCT | NCBI36 |
| NG_008624.1:g.7845_7846insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-130_766-129insAG MANE Select | ENSP00000167586.6:n.766-130_766-129insAG | |
| ENST00000167586.6:c.766-130_766-129insAG | ENSP00000167586.6:n.766-130_766-129insAG | |
| ENST00000476662.1:n.216-130_216-129insAG | ||
| NM_000526.4:c.766-130_766-129insAG | NP_000517.2:n.766-130_766-129insAG | |
| NM_000526.5:c.766-130_766-129insAG MANE Select | NP_000517.3:n.766-130_766-129insAG |