Canonical Allele Identifier: CA2657583869

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581541-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581542dup , CM000684.2:g.50581542dup	GRCh38
NC_000022.10:g.51019971dup , CM000684.1:g.51019971dup	GRCh37
NC_000022.9:g.49366837dup	NCBI36
NG_012643.1:g.2126dup
NG_029213.1:g.6458dup , LRG_855:g.6458dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.459dup (CHKB) MANE Select	ENSP00000384400.3:p.Lys154GlufsTer?
ENST00000406938.2:c.459dup (CHKB)	ENSP00000384400.2:p.Lys154GlufsTer?
ENST00000463053.1:n.608dup (CHKB)
ENST00000468532.5:n.336dup (CHKB)
ENST00000476289.5:n.732dup (CHKB)
ENST00000479003.5:n.1084dup (CHKB)
ENST00000481673.5:n.909dup (CHKB)
ENST00000484266.5:n.576+707dup (CHKB)
ENST00000492556.5:n.1229dup (CHKB-CPT1B)
ENST00000492582.5:n.1118dup (CHKB)
NM_005198.4:c.459dup , LRG_855t1:c.459dup (CHKB)	NP_005189.2:p.Lys154GlufsTer?
NR_027928.2:n.677dup (CHKB-CPT1B)
NM_005198.5:c.459dup (CHKB) MANE Select	NP_005189.2:p.Lys154GlufsTer?