Canonical Allele Identifier: CA2410936368

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582385_50582404delinsCCCGCGGCCGGCCCTACCTG , CM000684.2:g.50582385_50582404delinsCCCGCGGCCGGCCCTACCTG	GRCh38
NC_000022.10:g.51020814_51020833delinsCCCGCGGCCGGCCCTACCTG , CM000684.1:g.51020814_51020833delinsCCCGCGGCCGGCCCTACCTG	GRCh37
NC_000022.9:g.49367680_49367699delinsCCCGCGGCCGGCCCTACCTG	NCBI36
NG_012643.1:g.1264_1283delinsCAGGTAGGGCCGGCCGCGGG
NG_029213.1:g.5596_5615delinsCAGGTAGGGCCGGCCGCGGG , LRG_855:g.5596_5615delinsCAGGTAGGGCCGGCCGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB) MANE Select	ENSP00000384400.3:n.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG
ENST00000406938.2:c.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB)	ENSP00000384400.2:n.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG
ENST00000463053.1:n.307-47_307-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000465842.1:n.17_36delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000468532.5:n.55_74delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000476289.5:n.451_470delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000479003.5:n.417_436delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000481673.5:n.289-47_289-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000484266.5:n.421_440delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
ENST00000492556.5:n.562_581delinsCAGGTAGGGCCGGCCGCGGG (CHKB-CPT1B)
ENST00000492582.5:n.451_470delinsCAGGTAGGGCCGGCCGCGGG (CHKB)
NM_005198.4:c.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG , LRG_855t1:c.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB)	NP_005189.2:n.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG
NR_027928.2:n.443-47_443-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB-CPT1B)
NM_005198.5:c.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG (CHKB) MANE Select	NP_005189.2:n.225-47_225-28delinsCAGGTAGGGCCGGCCGCGGG