Canonical Allele Identifier: CA2657584581

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582500-C-CGCGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582501_50582507dup , CM000684.2:g.50582501_50582507dup	GRCh38
NC_000022.10:g.51020930_51020936dup , CM000684.1:g.51020930_51020936dup	GRCh37
NC_000022.9:g.49367796_49367802dup	NCBI36
NG_012643.1:g.1161_1167dup
NG_029213.1:g.5493_5499dup , LRG_855:g.5493_5499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+51_224+57dup (CHKB) MANE Select	ENSP00000384400.3:n.224+51_224+57dup
ENST00000406938.2:c.224+51_224+57dup (CHKB)	ENSP00000384400.2:n.224+51_224+57dup
ENST00000463053.1:n.307-150_307-144dup (CHKB)
ENST00000476289.5:n.348_354dup (CHKB)
ENST00000479003.5:n.314_320dup (CHKB)
ENST00000481673.5:n.288+51_288+57dup (CHKB)
ENST00000484266.5:n.318_324dup (CHKB)
ENST00000492556.5:n.459_465dup (CHKB-CPT1B)
ENST00000492582.5:n.348_354dup (CHKB)
NM_005198.4:c.224+51_224+57dup , LRG_855t1:c.224+51_224+57dup (CHKB)	NP_005189.2:n.224+51_224+57dup
NR_027928.2:n.442+51_442+57dup (CHKB-CPT1B)
NM_005198.5:c.224+51_224+57dup (CHKB) MANE Select	NP_005189.2:n.224+51_224+57dup