Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363088_49363090delinsCAA , CM000679.2:g.49363088_49363090delinsCAA | GRCh38 |
| NC_000017.10:g.47440450_47440452delinsCAA , CM000679.1:g.47440450_47440452delinsCAA | GRCh37 |
| NC_000017.9:g.44795449_44795451delinsCAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110882.1:n.136+571_136+573delinsCAA | ||
| NR_110883.1:n.31-1191_31-1189delinsCAA | ||
| NR_110884.1:n.58-1191_58-1189delinsCAA |