Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107875_12107877delinsTAG , CM000672.2:g.12107875_12107877delinsTAG | GRCh38 |
| NC_000010.10:g.12149874_12149876delinsTAG , CM000672.1:g.12149874_12149876delinsTAG | GRCh37 |
| NC_000010.9:g.12189880_12189882delinsTAG | NCBI36 |
| NG_033248.1:g.43959_43961delinsTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-34_2048-32delinsTAG MANE Select | ENSP00000263035.4:n.2048-34_2048-32delinsTAG | |
| ENST00000263035.8:c.2048-34_2048-32delinsTAG | ENSP00000263035.4:n.2048-34_2048-32delinsTAG | |
| ENST00000448829.1:c.551-34_551-32delinsTAG | ||
| NM_018706.6:c.2048-34_2048-32delinsTAG | NP_061176.3:n.2048-34_2048-32delinsTAG | |
| NM_018706.7:c.2048-34_2048-32delinsTAG MANE Select | NP_061176.4:n.2048-34_2048-32delinsTAG |