Canonical Allele Identifier: CA325540659

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1037129513
• gnomAD v2: 22-51020864-G-GGCCCC
• gnomAD v3: 22-50582435-G-GGCCCC
• gnomAD v4: 22-50582435-G-GGCCCC
• MyVariant Identifiers: chr22:g.51020864_51020865insGCCCC (hg19) ; chr22:g.50582435_50582436insGCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582446_50582450dup , CM000684.2:g.50582446_50582450dup	GRCh38
NC_000022.10:g.51020875_51020879dup , CM000684.1:g.51020875_51020879dup	GRCh37
NC_000022.9:g.49367741_49367745dup	NCBI36
NG_012643.1:g.1228_1232dup
NG_029213.1:g.5560_5564dup , LRG_855:g.5560_5564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-83_225-79dup (CHKB) MANE Select	ENSP00000384400.3:n.225-83_225-79dup
ENST00000406938.2:c.225-83_225-79dup (CHKB)	ENSP00000384400.2:n.225-83_225-79dup
ENST00000463053.1:n.307-83_307-79dup (CHKB)
ENST00000468532.5:n.19_23dup (CHKB)
ENST00000476289.5:n.415_419dup (CHKB)
ENST00000479003.5:n.381_385dup (CHKB)
ENST00000481673.5:n.289-83_289-79dup (CHKB)
ENST00000484266.5:n.385_389dup (CHKB)
ENST00000492556.5:n.526_530dup (CHKB-CPT1B)
ENST00000492582.5:n.415_419dup (CHKB)
NM_005198.4:c.225-83_225-79dup , LRG_855t1:c.225-83_225-79dup (CHKB)	NP_005189.2:n.225-83_225-79dup
NR_027928.2:n.443-83_443-79dup (CHKB-CPT1B)
NM_005198.5:c.225-83_225-79dup (CHKB) MANE Select	NP_005189.2:n.225-83_225-79dup