Canonical Allele Identifier: CA2410936399

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582416_50582442delinsGCCCCCTCCCGGCCAGGCCGGCCCCGC , CM000684.2:g.50582416_50582442delinsGCCCCCTCCCGGCCAGGCCGGCCCCGC	GRCh38
NC_000022.10:g.51020845_51020871delinsGCCCCCTCCCGGCCAGGCCGGCCCCGC , CM000684.1:g.51020845_51020871delinsGCCCCCTCCCGGCCAGGCCGGCCCCGC	GRCh37
NC_000022.9:g.49367711_49367737delinsGCCCCCTCCCGGCCAGGCCGGCCCCGC	NCBI36
NG_012643.1:g.1226_1252delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC
NG_029213.1:g.5558_5584delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC , LRG_855:g.5558_5584delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB) MANE Select	ENSP00000384400.3:n.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAG...
ENST00000406938.2:c.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)	ENSP00000384400.2:n.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAG...
ENST00000463053.1:n.307-85_307-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000468532.5:n.17_43delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000476289.5:n.413_439delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000479003.5:n.379_405delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000481673.5:n.289-85_289-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000484266.5:n.383_409delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
ENST00000492556.5:n.524_550delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB-CPT1B)
ENST00000492582.5:n.413_439delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)
NM_005198.4:c.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC , LRG_855t1:c.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB)	NP_005189.2:n.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC
NR_027928.2:n.443-85_443-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB-CPT1B)
NM_005198.5:c.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC (CHKB) MANE Select	NP_005189.2:n.225-85_225-59delinsGCGGGGCCGGCCTGGCCGGGAGGGGGC