Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071591_111071592insTTTTTTTTAT , CM000667.2:g.111071591_111071592insTTTTTTTTAT | GRCh38 |
| NC_000005.9:g.110407289_110407290insTTTTTTTTAT , CM000667.1:g.110407289_110407290insTTTTTTTTAT | GRCh37 |
| NC_000005.8:g.110435188_110435189insTTTTTTTTAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.34+74_34+75insTTTTTTTTAT | ENSP00000399099.2:n.34+74_34+75insTTTTTTTTAT | |
| NR_045089.1:n.1438+74_1438+75insTTTTTTTTAT | ||
| NR_045089.2:n.1456+74_1456+75insTTTTTTTTAT |