Canonical Allele Identifier: CA920391755

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1603443783
• gnomAD v4: 22-50582504-G-GCTGACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582513_50582519dup , CM000684.2:g.50582513_50582519dup	GRCh38
NC_000022.10:g.51020942_51020948dup , CM000684.1:g.51020942_51020948dup	GRCh37
NC_000022.9:g.49367808_49367814dup	NCBI36
NG_012643.1:g.1157_1163dup
NG_029213.1:g.5489_5495dup , LRG_855:g.5489_5495dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+47_224+53dup (CHKB) MANE Select	ENSP00000384400.3:n.224+47_224+53dup
ENST00000406938.2:c.224+47_224+53dup (CHKB)	ENSP00000384400.2:n.224+47_224+53dup
ENST00000463053.1:n.307-154_307-148dup (CHKB)
ENST00000476289.5:n.344_350dup (CHKB)
ENST00000479003.5:n.310_316dup (CHKB)
ENST00000481673.5:n.288+47_288+53dup (CHKB)
ENST00000484266.5:n.314_320dup (CHKB)
ENST00000492556.5:n.455_461dup (CHKB-CPT1B)
ENST00000492582.5:n.344_350dup (CHKB)
NM_005198.4:c.224+47_224+53dup , LRG_855t1:c.224+47_224+53dup (CHKB)	NP_005189.2:n.224+47_224+53dup
NR_027928.2:n.442+47_442+53dup (CHKB-CPT1B)
NM_005198.5:c.224+47_224+53dup (CHKB) MANE Select	NP_005189.2:n.224+47_224+53dup