Canonical Allele Identifier: CA2410936392
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582412_50582432delinsCCCGGCCCCCTCCCGGCCAGG , CM000684.2:g.50582412_50582432delinsCCCGGCCCCCTCCCGGCCAGG GRCh38
NC_000022.10:g.51020841_51020861delinsCCCGGCCCCCTCCCGGCCAGG , CM000684.1:g.51020841_51020861delinsCCCGGCCCCCTCCCGGCCAGG GRCh37
NC_000022.9:g.49367707_49367727delinsCCCGGCCCCCTCCCGGCCAGG NCBI36
NG_012643.1:g.1236_1256delinsCCTGGCCGGGAGGGGGCCGGG
NG_029213.1:g.5568_5588delinsCCTGGCCGGGAGGGGGCCGGG , LRG_855:g.5568_5588delinsCCTGGCCGGGAGGGGGCCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB) MANE Select ENSP00000384400.3:n.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG
ENST00000406938.2:c.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB) ENSP00000384400.2:n.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG
ENST00000463053.1:n.307-75_307-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000468532.5:n.27_47delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000476289.5:n.423_443delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000479003.5:n.389_409delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000481673.5:n.289-75_289-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000484266.5:n.393_413delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
ENST00000492556.5:n.534_554delinsCCTGGCCGGGAGGGGGCCGGG (CHKB-CPT1B)
ENST00000492582.5:n.423_443delinsCCTGGCCGGGAGGGGGCCGGG (CHKB)
NM_005198.4:c.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG , LRG_855t1:c.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB) NP_005189.2:n.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG
NR_027928.2:n.443-75_443-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB-CPT1B)
NM_005198.5:c.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG (CHKB) MANE Select NP_005189.2:n.225-75_225-55delinsCCTGGCCGGGAGGGGGCCGGG