Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780462_94780463delinsGT , CM000672.2:g.94780462_94780463delinsGT | GRCh38 |
| NC_000010.10:g.96540219_96540220delinsGT , CM000672.1:g.96540219_96540220delinsGT | GRCh37 |
| NC_000010.9:g.96530209_96530210delinsGT | NCBI36 |
| NG_008384.2:g.22757_22758delinsGT | |
| NG_008384.3:g.22782_22783delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-37_482-36delinsGT MANE Select | ENSP00000360372.3:n.482-37_482-36delinsGT... | |
| ENST00000645461.1:n.1535-37_1535-36delinsGT | ||
| ENST00000371321.7:c.482-37_482-36delinsGT | ENSP00000360372.3:n.482-37_482-36delinsGT... | |
| ENST00000464755.1:c.1245-37_1245-36delinsGT | ENSP00000483243.1:n.1245-37_1245-36delins... | |
| NM_000769.2:c.482-37_482-36delinsGT | NP_000760.1:n.482-37_482-36delinsGT | |
| NM_000769.4:c.482-37_482-36delinsGT MANE Select | NP_000760.1:n.482-37_482-36delinsGT |