Canonical Allele Identifier: CA640358327

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1426169121
• gnomAD v2: 22-51020832-T-TGCCGCG
• gnomAD v4: 22-50582403-T-TGCCGCG
• MyVariant Identifiers: chr22:g.51020832_51020833insGCCGCG (hg19) ; chr22:g.50582403_50582404insGCCGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582407_50582412dup , CM000684.2:g.50582407_50582412dup	GRCh38
NC_000022.10:g.51020836_51020841dup , CM000684.1:g.51020836_51020841dup	GRCh37
NC_000022.9:g.49367702_49367707dup	NCBI36
NG_012643.1:g.1259_1264dup
NG_029213.1:g.5591_5596dup , LRG_855:g.5591_5596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-52_225-47dup (CHKB) MANE Select	ENSP00000384400.3:n.225-52_225-47dup
ENST00000406938.2:c.225-52_225-47dup (CHKB)	ENSP00000384400.2:n.225-52_225-47dup
ENST00000463053.1:n.307-52_307-47dup (CHKB)
ENST00000465842.1:n.12_17dup (CHKB)
ENST00000468532.5:n.50_55dup (CHKB)
ENST00000476289.5:n.446_451dup (CHKB)
ENST00000479003.5:n.412_417dup (CHKB)
ENST00000481673.5:n.289-52_289-47dup (CHKB)
ENST00000484266.5:n.416_421dup (CHKB)
ENST00000492556.5:n.557_562dup (CHKB-CPT1B)
ENST00000492582.5:n.446_451dup (CHKB)
NM_005198.4:c.225-52_225-47dup , LRG_855t1:c.225-52_225-47dup (CHKB)	NP_005189.2:n.225-52_225-47dup
NR_027928.2:n.443-52_443-47dup (CHKB-CPT1B)
NM_005198.5:c.225-52_225-47dup (CHKB) MANE Select	NP_005189.2:n.225-52_225-47dup