Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401081_127401082delinsAT , CM000670.2:g.127401081_127401082delinsAT | GRCh38 |
| NC_000008.10:g.128413326_128413327delinsAT , CM000670.1:g.128413326_128413327delinsAT | GRCh37 |
| NC_000008.9:g.128482508_128482509delinsAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109834.1:n.683_684delinsAT (CCAT2) | |
| NR_117100.1:n.1176+19747_1176+19748delinsAT (CASC8) | |
| ENST00000645438.1:c.-559-13807_-559-13806delinsAT (POU5F1B) | ENSP00000495779.1:n.-559-13807_-559-13806delinsAT |