Canonical Allele Identifier: CA2410936385

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582407_50582433delinsGCGGCCCCGGCCCCCTCCCGGCCAGGC , CM000684.2:g.50582407_50582433delinsGCGGCCCCGGCCCCCTCCCGGCCAGGC	GRCh38
NC_000022.10:g.51020836_51020862delinsGCGGCCCCGGCCCCCTCCCGGCCAGGC , CM000684.1:g.51020836_51020862delinsGCGGCCCCGGCCCCCTCCCGGCCAGGC	GRCh37
NC_000022.9:g.49367702_49367728delinsGCGGCCCCGGCCCCCTCCCGGCCAGGC	NCBI36
NG_012643.1:g.1235_1261delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC
NG_029213.1:g.5567_5593delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC , LRG_855:g.5567_5593delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB) MANE Select	ENSP00000384400.3:n.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGG...
ENST00000406938.2:c.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)	ENSP00000384400.2:n.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGG...
ENST00000463053.1:n.307-76_307-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000468532.5:n.26_52delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000476289.5:n.422_448delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000479003.5:n.388_414delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000481673.5:n.289-76_289-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000484266.5:n.392_418delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
ENST00000492556.5:n.533_559delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB-CPT1B)
ENST00000492582.5:n.422_448delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)
NM_005198.4:c.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC , LRG_855t1:c.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB)	NP_005189.2:n.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC
NR_027928.2:n.443-76_443-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB-CPT1B)
NM_005198.5:c.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC (CHKB) MANE Select	NP_005189.2:n.225-76_225-50delinsGCCTGGCCGGGAGGGGGCCGGGGCCGC