Canonical Allele Identifier: CA2657584482

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582421-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582422dup , CM000684.2:g.50582422dup	GRCh38
NC_000022.10:g.51020851dup , CM000684.1:g.51020851dup	GRCh37
NC_000022.9:g.49367717dup	NCBI36
NG_012643.1:g.1246dup
NG_029213.1:g.5578dup , LRG_855:g.5578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-65dup (CHKB) MANE Select	ENSP00000384400.3:n.225-65dup
ENST00000406938.2:c.225-65dup (CHKB)	ENSP00000384400.2:n.225-65dup
ENST00000463053.1:n.307-65dup (CHKB)
ENST00000468532.5:n.37dup (CHKB)
ENST00000476289.5:n.433dup (CHKB)
ENST00000479003.5:n.399dup (CHKB)
ENST00000481673.5:n.289-65dup (CHKB)
ENST00000484266.5:n.403dup (CHKB)
ENST00000492556.5:n.544dup (CHKB-CPT1B)
ENST00000492582.5:n.433dup (CHKB)
NM_005198.4:c.225-65dup , LRG_855t1:c.225-65dup (CHKB)	NP_005189.2:n.225-65dup
NR_027928.2:n.443-65dup (CHKB-CPT1B)
NM_005198.5:c.225-65dup (CHKB) MANE Select	NP_005189.2:n.225-65dup