Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401332_127401333insGCC , CM000670.2:g.127401332_127401333insGCC | GRCh38 |
| NC_000008.10:g.128413577_128413578insGCC , CM000670.1:g.128413577_128413578insGCC | GRCh37 |
| NC_000008.9:g.128482759_128482760insGCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-559-13556_-559-13555insGCC (POU5F1B) | ENSP00000495779.1:n.-559-13556_-559-13555insGCC | |
| NR_109834.1:n.934_935insGCC (CCAT2) | ||
| NR_117100.1:n.1176+19496_1176+19497insGGC (CASC8) |