Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935030_88935032delinsCAA , CM000672.2:g.88935030_88935032delinsCAA | GRCh38 |
| NC_000010.10:g.90694787_90694789delinsCAA , CM000672.1:g.90694787_90694789delinsCAA | GRCh37 |
| NC_000010.9:g.90684767_90684769delinsCAA | NCBI36 |
| NG_011541.1:g.61359_61361delinsTTG , LRG_781:g.61359_61361delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12594_1254+12596delinsCAA (STAMBPL1) | ENSP00000360995.3:n.1254+12594_1254+12596delinsCAA | |
| NR_125373.1:n.655_657delinsCAA (ACTA2-AS1) |