Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401103_127401105del , CM000670.2:g.127401103_127401105del | GRCh38 |
| NC_000008.10:g.128413348_128413350del , CM000670.1:g.128413348_128413350del | GRCh37 |
| NC_000008.9:g.128482530_128482532del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645438.1:c.-559-13785_-559-13783del (POU5F1B) | ENSP00000495779.1:n.-559-13785_-559-13783... | |
| NR_109834.1:n.705_707del (CCAT2) | ||
| NR_117100.1:n.1176+19726_1176+19728del (CASC8) |