Linked Data
dbSNP Id:
rs1169205080
gnomAD v2:
22-51020828-T-TACCTGCCGCGGCCCC
gnomAD v4:
22-50582399-T-TACCTGCCGCGGCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582400_50582414dup , CM000684.2:g.50582400_50582414dup | GRCh38 |
| NC_000022.10:g.51020829_51020843dup , CM000684.1:g.51020829_51020843dup | GRCh37 |
| NC_000022.9:g.49367695_49367709dup | NCBI36 |
| NG_012643.1:g.1254_1268dup | |
| NG_029213.1:g.5586_5600dup , LRG_855:g.5586_5600dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.225-57_225-43dup (CHKB) MANE Select | ENSP00000384400.3:n.225-57_225-43dup | |
| ENST00000406938.2:c.225-57_225-43dup (CHKB) | ENSP00000384400.2:n.225-57_225-43dup | |
| ENST00000463053.1:n.307-57_307-43dup (CHKB) | ||
| ENST00000465842.1:n.7_21dup (CHKB) | ||
| ENST00000468532.5:n.45_59dup (CHKB) | ||
| ENST00000476289.5:n.441_455dup (CHKB) | ||
| ENST00000479003.5:n.407_421dup (CHKB) | ||
| ENST00000481673.5:n.289-57_289-43dup (CHKB) | ||
| ENST00000484266.5:n.411_425dup (CHKB) | ||
| ENST00000492556.5:n.552_566dup (CHKB-CPT1B) | ||
| ENST00000492582.5:n.441_455dup (CHKB) | ||
| NM_005198.4:c.225-57_225-43dup , LRG_855t1:c.225-57_225-43dup (CHKB) | NP_005189.2:n.225-57_225-43dup | |
| NR_027928.2:n.443-57_443-43dup (CHKB-CPT1B) | ||
| NM_005198.5:c.225-57_225-43dup (CHKB) MANE Select | NP_005189.2:n.225-57_225-43dup |