Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857239_203857240delinsGT , CM000664.2:g.203857239_203857240delinsGT | GRCh38 |
| NC_000002.11:g.204721962_204721963delinsGT , CM000664.1:g.204721962_204721963delinsGT | GRCh37 |
| NC_000002.10:g.204430207_204430208delinsGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3163_47+3164delinsGT | ENSP00000512655.1:n.47+3163_47+3164delinsGT | |
| XR_923797.1:n.225-5234_225-5233delinsGT |