Linked Data
dbSNP Id:
rs1270986913
gnomAD v2:
22-51020895-A-AG
gnomAD v3:
22-50582466-A-AG
gnomAD v4:
22-50582466-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582472dup , CM000684.2:g.50582472dup | GRCh38 |
| NC_000022.10:g.51020901dup , CM000684.1:g.51020901dup | GRCh37 |
| NC_000022.9:g.49367767dup | NCBI36 |
| NG_012643.1:g.1201dup | |
| NG_029213.1:g.5533dup , LRG_855:g.5533dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.224+91dup (CHKB) MANE Select | ENSP00000384400.3:n.224+91dup | |
| ENST00000406938.2:c.224+91dup (CHKB) | ENSP00000384400.2:n.224+91dup | |
| ENST00000463053.1:n.307-110dup (CHKB) | ||
| ENST00000476289.5:n.388dup (CHKB) | ||
| ENST00000479003.5:n.354dup (CHKB) | ||
| ENST00000481673.5:n.288+91dup (CHKB) | ||
| ENST00000484266.5:n.358dup (CHKB) | ||
| ENST00000492556.5:n.499dup (CHKB-CPT1B) | ||
| ENST00000492582.5:n.388dup (CHKB) | ||
| NM_005198.4:c.224+91dup , LRG_855t1:c.224+91dup (CHKB) | NP_005189.2:n.224+91dup | |
| NR_027928.2:n.442+91dup (CHKB-CPT1B) | ||
| NM_005198.5:c.224+91dup (CHKB) MANE Select | NP_005189.2:n.224+91dup |