Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857254_203857257del , CM000664.2:g.203857254_203857257del | GRCh38 |
| NC_000002.11:g.204721977_204721980del , CM000664.1:g.204721977_204721980del | GRCh37 |
| NC_000002.10:g.204430222_204430225del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3178_47+3181del | ENSP00000512655.1:n.47+3178_47+3181del | |
| XR_923797.1:n.225-5219_225-5216del |