Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343297_127343329delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT , CM000670.2:g.127343297_127343329delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT | GRCh38 |
| NC_000008.10:g.128355543_128355575delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT , CM000670.1:g.128355543_128355575delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT | GRCh37 |
| NC_000008.9:g.128424725_128424757delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3862_-560+3894delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT (POU5F1B) | ENSP00000495779.1:n.-560+3862_-560+3894delinsCAATAAAATAAAAAAA... | |
| NR_117099.1:n.457+3862_457+3894delinsCAATAAAATAAAAAAAAAAGACACGTGGAATTT (CASC21) | ||
| NR_117100.1:n.1177-53269_1177-53237delinsAAATTCCACGTGTCTTTTTTTTTTATTTTATTG (CASC8) |