Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50583207_50583214dup , CM000684.2:g.50583207_50583214dup | GRCh38 |
| NC_000022.10:g.51021636_51021643dup , CM000684.1:g.51021636_51021643dup | GRCh37 |
| NC_000022.9:g.49368502_49368509dup | NCBI36 |
| NG_012643.1:g.468_475dup | |
| NG_029213.1:g.4800_4807dup , LRG_855:g.4800_4807dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_021492.2:n.182_189dup (CHKB-DT) | |
| NR_110536.1:n.182_189dup (CHKB-DT) | |
| ENST00000463053.1:n.307-843_307-836dup (CHKB) |