Linked Data
dbSNP Id:
rs954051094
gnomAD v2:
22-51020836-G-GCGGCCC
gnomAD v3:
22-50582407-G-GCGGCCC
gnomAD v4:
22-50582407-G-GCGGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582415_50582420dup , CM000684.2:g.50582415_50582420dup | GRCh38 |
| NC_000022.10:g.51020844_51020849dup , CM000684.1:g.51020844_51020849dup | GRCh37 |
| NC_000022.9:g.49367710_49367715dup | NCBI36 |
| NG_012643.1:g.1255_1260dup | |
| NG_029213.1:g.5587_5592dup , LRG_855:g.5587_5592dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.225-56_225-51dup (CHKB) MANE Select | ENSP00000384400.3:n.225-56_225-51dup | |
| ENST00000406938.2:c.225-56_225-51dup (CHKB) | ENSP00000384400.2:n.225-56_225-51dup | |
| ENST00000463053.1:n.307-56_307-51dup (CHKB) | ||
| ENST00000465842.1:n.8_13dup (CHKB) | ||
| ENST00000468532.5:n.46_51dup (CHKB) | ||
| ENST00000476289.5:n.442_447dup (CHKB) | ||
| ENST00000479003.5:n.408_413dup (CHKB) | ||
| ENST00000481673.5:n.289-56_289-51dup (CHKB) | ||
| ENST00000484266.5:n.412_417dup (CHKB) | ||
| ENST00000492556.5:n.553_558dup (CHKB-CPT1B) | ||
| ENST00000492582.5:n.442_447dup (CHKB) | ||
| NM_005198.4:c.225-56_225-51dup , LRG_855t1:c.225-56_225-51dup (CHKB) | NP_005189.2:n.225-56_225-51dup | |
| NR_027928.2:n.443-56_443-51dup (CHKB-CPT1B) | ||
| NM_005198.5:c.225-56_225-51dup (CHKB) MANE Select | NP_005189.2:n.225-56_225-51dup |