Canonical Allele Identifier: CA2657584591

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582501-G-GCGGCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582503_50582509dup , CM000684.2:g.50582503_50582509dup	GRCh38
NC_000022.10:g.51020932_51020938dup , CM000684.1:g.51020932_51020938dup	GRCh37
NC_000022.9:g.49367798_49367804dup	NCBI36
NG_012643.1:g.1160_1166dup
NG_029213.1:g.5492_5498dup , LRG_855:g.5492_5498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+50_224+56dup (CHKB) MANE Select	ENSP00000384400.3:n.224+50_224+56dup
ENST00000406938.2:c.224+50_224+56dup (CHKB)	ENSP00000384400.2:n.224+50_224+56dup
ENST00000463053.1:n.307-151_307-145dup (CHKB)
ENST00000476289.5:n.347_353dup (CHKB)
ENST00000479003.5:n.313_319dup (CHKB)
ENST00000481673.5:n.288+50_288+56dup (CHKB)
ENST00000484266.5:n.317_323dup (CHKB)
ENST00000492556.5:n.458_464dup (CHKB-CPT1B)
ENST00000492582.5:n.347_353dup (CHKB)
NM_005198.4:c.224+50_224+56dup , LRG_855t1:c.224+50_224+56dup (CHKB)	NP_005189.2:n.224+50_224+56dup
NR_027928.2:n.442+50_442+56dup (CHKB-CPT1B)
NM_005198.5:c.224+50_224+56dup (CHKB) MANE Select	NP_005189.2:n.224+50_224+56dup