Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652683_171652684insACA , CM000663.2:g.171652683_171652684insACA | GRCh38 |
| NC_000001.10:g.171621823_171621824insACA , CM000663.1:g.171621823_171621824insACA | GRCh37 |
| NC_000001.9:g.169888446_169888447insACA | NCBI36 |
| NG_008859.1:g.4950_4951insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-73_-72insTGT MANE Select | ENSP00000037502.5:n.-73_-72insTGT | |
| NM_000261.2:c.-73_-72insTGT MANE Select | NP_000252.1:n.-73_-72insTGT |