Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127400970_127400971del , CM000670.2:g.127400970_127400971del | GRCh38 |
| NC_000008.10:g.128413215_128413216del , CM000670.1:g.128413215_128413216del | GRCh37 |
| NC_000008.9:g.128482397_128482398del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-559-13918_-559-13917del (POU5F1B) | ENSP00000495779.1:n.-559-13918_-559-13917del | |
| NR_109834.1:n.572_573del (CCAT2) | ||
| NR_117100.1:n.1176+19860_1176+19861del (CASC8) |