Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56663955_56663956insG , CM000678.2:g.56663955_56663956insG | GRCh38 |
| NC_000016.9:g.56697867_56697868insG , CM000678.1:g.56697867_56697868insG | GRCh37 |
| NC_000016.8:g.55255368_55255369insG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000622334.1:c.*130+23875_*130+23876insG | ENSP00000478425.1:n.*130+23875_*130+23876insG |
| XR_001752207.1:n.86+255_86+256insG | |
| XR_001752208.1:n.1119+255_1119+256insG | |
| XR_001752209.1:n.702+255_702+256insG | |
| XR_243454.3:n.1118+255_1118+256insG |