Canonical Allele Identifier: CA1026671852

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070716015
• gnomAD v3: 22-50582445-C-CATGGG
• gnomAD v4: 22-50582445-C-CATGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582445_50582446insATGGG , CM000684.2:g.50582445_50582446insATGGG	GRCh38
NC_000022.10:g.51020874_51020875insATGGG , CM000684.1:g.51020874_51020875insATGGG	GRCh37
NC_000022.9:g.49367740_49367741insATGGG	NCBI36
NG_012643.1:g.1222_1223insCCCAT
NG_029213.1:g.5554_5555insCCCAT , LRG_855:g.5554_5555insCCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-89_225-88insCCCAT (CHKB) MANE Select	ENSP00000384400.3:n.225-89_225-88insCCCAT
ENST00000406938.2:c.225-89_225-88insCCCAT (CHKB)	ENSP00000384400.2:n.225-89_225-88insCCCAT
ENST00000463053.1:n.307-89_307-88insCCCAT (CHKB)
ENST00000468532.5:n.13_14insCCCAT (CHKB)
ENST00000476289.5:n.409_410insCCCAT (CHKB)
ENST00000479003.5:n.375_376insCCCAT (CHKB)
ENST00000481673.5:n.289-89_289-88insCCCAT (CHKB)
ENST00000484266.5:n.379_380insCCCAT (CHKB)
ENST00000492556.5:n.520_521insCCCAT (CHKB-CPT1B)
ENST00000492582.5:n.409_410insCCCAT (CHKB)
NM_005198.4:c.225-89_225-88insCCCAT , LRG_855t1:c.225-89_225-88insCCCAT (CHKB)	NP_005189.2:n.225-89_225-88insCCCAT
NR_027928.2:n.443-89_443-88insCCCAT (CHKB-CPT1B)
NM_005198.5:c.225-89_225-88insCCCAT (CHKB) MANE Select	NP_005189.2:n.225-89_225-88insCCCAT