Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343300_127343301insTTATC , CM000670.2:g.127343300_127343301insTTATC | GRCh38 |
| NC_000008.10:g.128355546_128355547insTTATC , CM000670.1:g.128355546_128355547insTTATC | GRCh37 |
| NC_000008.9:g.128424728_128424729insTTATC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3865_-560+3866insTTATC (POU5F1B) | ENSP00000495779.1:n.-560+3865_-560+3866insTTATC | |
| NR_117099.1:n.457+3865_457+3866insTTATC (CASC21) | ||
| NR_117100.1:n.1177-53241_1177-53240insGATAA (CASC8) |