Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343313_127343315del , CM000670.2:g.127343313_127343315del | GRCh38 |
| NC_000008.10:g.128355559_128355561del , CM000670.1:g.128355559_128355561del | GRCh37 |
| NC_000008.9:g.128424741_128424743del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645438.1:c.-560+3878_-560+3880del (POU5F1B) | ENSP00000495779.1:n.-560+3878_-560+3880de... | |
| NR_117099.1:n.457+3878_457+3880del (CASC21) | ||
| NR_117100.1:n.1177-53248_1177-53246del (CASC8) |