Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343333_127343335delinsCTT , CM000670.2:g.127343333_127343335delinsCTT | GRCh38 |
| NC_000008.10:g.128355579_128355581delinsCTT , CM000670.1:g.128355579_128355581delinsCTT | GRCh37 |
| NC_000008.9:g.128424761_128424763delinsCTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3898_-560+3900delinsCTT (POU5F1B) | ENSP00000495779.1:n.-560+3898_-560+3900delinsCTT | |
| NR_117099.1:n.457+3898_457+3900delinsCTT (CASC21) | ||
| NR_117100.1:n.1177-53275_1177-53273delinsAAG (CASC8) |