Canonical Allele Identifier: CA1026671825

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v3: 22-50582399-T-TACCTGCCGCGGCCCCGGCCCC
• gnomAD v4: 22-50582399-T-TACCTGCCGCGGCCCCGGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582400_50582420dup , CM000684.2:g.50582400_50582420dup	GRCh38
NC_000022.10:g.51020829_51020849dup , CM000684.1:g.51020829_51020849dup	GRCh37
NC_000022.9:g.49367695_49367715dup	NCBI36
NG_012643.1:g.1248_1268dup
NG_029213.1:g.5580_5600dup , LRG_855:g.5580_5600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-63_225-43dup (CHKB) MANE Select	ENSP00000384400.3:n.225-63_225-43dup
ENST00000406938.2:c.225-63_225-43dup (CHKB)	ENSP00000384400.2:n.225-63_225-43dup
ENST00000463053.1:n.307-63_307-43dup (CHKB)
ENST00000465842.1:n.1_21dup (CHKB)
ENST00000468532.5:n.39_59dup (CHKB)
ENST00000476289.5:n.435_455dup (CHKB)
ENST00000479003.5:n.401_421dup (CHKB)
ENST00000481673.5:n.289-63_289-43dup (CHKB)
ENST00000484266.5:n.405_425dup (CHKB)
ENST00000492556.5:n.546_566dup (CHKB-CPT1B)
ENST00000492582.5:n.435_455dup (CHKB)
NM_005198.4:c.225-63_225-43dup , LRG_855t1:c.225-63_225-43dup (CHKB)	NP_005189.2:n.225-63_225-43dup
NR_027928.2:n.443-63_443-43dup (CHKB-CPT1B)
NM_005198.5:c.225-63_225-43dup (CHKB) MANE Select	NP_005189.2:n.225-63_225-43dup