Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584594_41584595insACA , CM000679.2:g.41584594_41584595insACA | GRCh38 |
| NC_000017.10:g.39740846_39740847insACA , CM000679.1:g.39740846_39740847insACA | GRCh37 |
| NC_000017.9:g.36994372_36994373insACA | NCBI36 |
| NG_008624.1:g.7301_7302insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-182_609-181insTGT MANE Select | ENSP00000167586.6:n.609-182_609-181insTGT | |
| ENST00000167586.6:c.609-182_609-181insTGT | ENSP00000167586.6:n.609-182_609-181insTGT | |
| NM_000526.4:c.609-182_609-181insTGT | NP_000517.2:n.609-182_609-181insTGT | |
| NM_000526.5:c.609-182_609-181insTGT MANE Select | NP_000517.3:n.609-182_609-181insTGT |