Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652665_171652666insACT , CM000663.2:g.171652665_171652666insACT | GRCh38 |
| NC_000001.10:g.171621805_171621806insACT , CM000663.1:g.171621805_171621806insACT | GRCh37 |
| NC_000001.9:g.169888428_169888429insACT | NCBI36 |
| NG_008859.1:g.4968_4969insAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-55_-54insAGT MANE Select | ENSP00000037502.5:n.-55_-54insAGT | |
| ENST00000037502.10:c.-55_-54insAGT | ENSP00000037502.5:n.-55_-54insAGT | |
| NM_000261.2:c.-55_-54insAGT MANE Select | NP_000252.1:n.-55_-54insAGT |