Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217445659_217445662delinsCTTT , CM000664.2:g.217445659_217445662delinsCTTT | GRCh38 |
| NC_000002.11:g.218310382_218310385delinsCTTT , CM000664.1:g.218310382_218310385delinsCTTT | GRCh37 |
| NC_000002.10:g.218018627_218018630delinsCTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474063.5:n.500-11546_500-11543delinsAAAG | ||
| ENST00000486365.5:n.1523-11546_1523-11543delinsAAAG | ||
| NR_026597.1:n.1523-11546_1523-11543delinsAAAG | ||
| NR_026597.2:n.1523-11546_1523-11543delinsAAAG |