Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401131_127401132delinsGC , CM000670.2:g.127401131_127401132delinsGC | GRCh38 |
| NC_000008.10:g.128413376_128413377delinsGC , CM000670.1:g.128413376_128413377delinsGC | GRCh37 |
| NC_000008.9:g.128482558_128482559delinsGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645438.1:c.-559-13757_-559-13756delinsGC (POU5F1B) | ENSP00000495779.1:n.-559-13757_-559-13756... | |
| NR_109834.1:n.733_734delinsGC (CCAT2) | ||
| NR_117100.1:n.1176+19697_1176+19698delinsGC (CASC8) |