Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343305_127343307delinsTAA , CM000670.2:g.127343305_127343307delinsTAA | GRCh38 |
| NC_000008.10:g.128355551_128355553delinsTAA , CM000670.1:g.128355551_128355553delinsTAA | GRCh37 |
| NC_000008.9:g.128424733_128424735delinsTAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3870_-560+3872delinsTAA (POU5F1B) | ENSP00000495779.1:n.-560+3870_-560+3872delinsTAA | |
| NR_117099.1:n.457+3870_457+3872delinsTAA (CASC21) | ||
| NR_117100.1:n.1177-53247_1177-53245delinsTTA (CASC8) |