Linked Data
dbSNP Id:
rs1304367646
gnomAD v2:
22-51020844-GGCCCCCTCCCGGCCAGGCCGGCCCC-G
gnomAD v4:
22-50582415-GGCCCCCTCCCGGCCAGGCCGGCCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582421_50582445del , CM000684.2:g.50582421_50582445del | GRCh38 |
| NC_000022.10:g.51020850_51020874del , CM000684.1:g.51020850_51020874del | GRCh37 |
| NC_000022.9:g.49367716_49367740del | NCBI36 |
| NG_012643.1:g.1228_1252del | |
| NG_029213.1:g.5560_5584del , LRG_855:g.5560_5584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.225-83_225-59del (CHKB) MANE Select | ENSP00000384400.3:n.225-83_225-59del | |
| ENST00000406938.2:c.225-83_225-59del (CHKB) | ENSP00000384400.2:n.225-83_225-59del | |
| ENST00000463053.1:n.307-83_307-59del (CHKB) | ||
| ENST00000468532.5:n.19_43del (CHKB) | ||
| ENST00000476289.5:n.415_439del (CHKB) | ||
| ENST00000479003.5:n.381_405del (CHKB) | ||
| ENST00000481673.5:n.289-83_289-59del (CHKB) | ||
| ENST00000484266.5:n.385_409del (CHKB) | ||
| ENST00000492556.5:n.526_550del (CHKB-CPT1B) | ||
| ENST00000492582.5:n.415_439del (CHKB) | ||
| NM_005198.4:c.225-83_225-59del , LRG_855t1:c.225-83_225-59del (CHKB) | NP_005189.2:n.225-83_225-59del | |
| NR_027928.2:n.443-83_443-59del (CHKB-CPT1B) | ||
| NM_005198.5:c.225-83_225-59del (CHKB) MANE Select | NP_005189.2:n.225-83_225-59del |