Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857253_203857257delinsCCTTT , CM000664.2:g.203857253_203857257delinsCCTTT | GRCh38 |
| NC_000002.11:g.204721976_204721980delinsCCTTT , CM000664.1:g.204721976_204721980delinsCCTTT | GRCh37 |
| NC_000002.10:g.204430221_204430225delinsCCTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3177_47+3181delinsCCTTT | ENSP00000512655.1:n.47+3177_47+3181delinsCCTTT | |
| XR_923797.1:n.225-5220_225-5216delinsCCTTT |