Canonical Allele Identifier: CA2410936398

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582415_50582440delinsGGCCCCCTCCCGGCCAGGCCGGCCCC , CM000684.2:g.50582415_50582440delinsGGCCCCCTCCCGGCCAGGCCGGCCCC	GRCh38
NC_000022.10:g.51020844_51020869delinsGGCCCCCTCCCGGCCAGGCCGGCCCC , CM000684.1:g.51020844_51020869delinsGGCCCCCTCCCGGCCAGGCCGGCCCC	GRCh37
NC_000022.9:g.49367710_49367735delinsGGCCCCCTCCCGGCCAGGCCGGCCCC	NCBI36
NG_012643.1:g.1228_1253delinsGGGGCCGGCCTGGCCGGGAGGGGGCC
NG_029213.1:g.5560_5585delinsGGGGCCGGCCTGGCCGGGAGGGGGCC , LRG_855:g.5560_5585delinsGGGGCCGGCCTGGCCGGGAGGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB) MANE Select	ENSP00000384400.3:n.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGG...
ENST00000406938.2:c.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)	ENSP00000384400.2:n.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGG...
ENST00000463053.1:n.307-83_307-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000468532.5:n.19_44delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000476289.5:n.415_440delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000479003.5:n.381_406delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000481673.5:n.289-83_289-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000484266.5:n.385_410delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
ENST00000492556.5:n.526_551delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB-CPT1B)
ENST00000492582.5:n.415_440delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)
NM_005198.4:c.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC , LRG_855t1:c.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB)	NP_005189.2:n.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC
NR_027928.2:n.443-83_443-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB-CPT1B)
NM_005198.5:c.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC (CHKB) MANE Select	NP_005189.2:n.225-83_225-58delinsGGGGCCGGCCTGGCCGGGAGGGGGCC