Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343323_127343326delinsGGAA , CM000670.2:g.127343323_127343326delinsGGAA | GRCh38 |
| NC_000008.10:g.128355569_128355572delinsGGAA , CM000670.1:g.128355569_128355572delinsGGAA | GRCh37 |
| NC_000008.9:g.128424751_128424754delinsGGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3888_-560+3891delinsGGAA (POU5F1B) | ENSP00000495779.1:n.-560+3888_-560+3891delinsGGAA | |
| NR_117099.1:n.457+3888_457+3891delinsGGAA (CASC21) | ||
| NR_117100.1:n.1177-53266_1177-53263delinsTTCC (CASC8) |