Linked Data
dbSNP Id:
rs1569054644
gnomAD v2:
22-51020846-CCCCCT-C
gnomAD v4:
22-50582417-CCCCCT-C
MyVariant Identifiers:
chr22:g.51020847_51020851del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582421_50582425del , CM000684.2:g.50582421_50582425del | GRCh38 |
| NC_000022.10:g.51020850_51020854del , CM000684.1:g.51020850_51020854del | GRCh37 |
| NC_000022.9:g.49367716_49367720del | NCBI36 |
| NG_012643.1:g.1246_1250del | |
| NG_029213.1:g.5578_5582del , LRG_855:g.5578_5582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.225-65_225-61del (CHKB) MANE Select | ENSP00000384400.3:n.225-65_225-61del | |
| ENST00000406938.2:c.225-65_225-61del (CHKB) | ENSP00000384400.2:n.225-65_225-61del | |
| ENST00000463053.1:n.307-65_307-61del (CHKB) | ||
| ENST00000468532.5:n.37_41del (CHKB) | ||
| ENST00000476289.5:n.433_437del (CHKB) | ||
| ENST00000479003.5:n.399_403del (CHKB) | ||
| ENST00000481673.5:n.289-65_289-61del (CHKB) | ||
| ENST00000484266.5:n.403_407del (CHKB) | ||
| ENST00000492556.5:n.544_548del (CHKB-CPT1B) | ||
| ENST00000492582.5:n.433_437del (CHKB) | ||
| NM_005198.4:c.225-65_225-61del , LRG_855t1:c.225-65_225-61del (CHKB) | NP_005189.2:n.225-65_225-61del | |
| NR_027928.2:n.443-65_443-61del (CHKB-CPT1B) | ||
| NM_005198.5:c.225-65_225-61del (CHKB) MANE Select | NP_005189.2:n.225-65_225-61del |