Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343307_127343316delinsAAAAAAAAAG , CM000670.2:g.127343307_127343316delinsAAAAAAAAAG | GRCh38 |
| NC_000008.10:g.128355553_128355562delinsAAAAAAAAAG , CM000670.1:g.128355553_128355562delinsAAAAAAAAAG | GRCh37 |
| NC_000008.9:g.128424735_128424744delinsAAAAAAAAAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645438.1:c.-560+3872_-560+3881delinsAAAAAAAAAG (POU5F1B) | ENSP00000495779.1:n.-560+3872_-560+3881de... | |
| NR_117099.1:n.457+3872_457+3881delinsAAAAAAAAAG (CASC21) | ||
| NR_117100.1:n.1177-53256_1177-53247delinsCTTTTTTTTT (CASC8) |