Canonical Allele Identifier: CA2657584620

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582508-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582512del , CM000684.2:g.50582512del	GRCh38
NC_000022.10:g.51020941del , CM000684.1:g.51020941del	GRCh37
NC_000022.9:g.49367807del	NCBI36
NG_012643.1:g.1159del
NG_029213.1:g.5491del , LRG_855:g.5491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+49del (CHKB) MANE Select	ENSP00000384400.3:n.224+49del
ENST00000406938.2:c.224+49del (CHKB)	ENSP00000384400.2:n.224+49del
ENST00000463053.1:n.307-152del (CHKB)
ENST00000476289.5:n.346del (CHKB)
ENST00000479003.5:n.312del (CHKB)
ENST00000481673.5:n.288+49del (CHKB)
ENST00000484266.5:n.316del (CHKB)
ENST00000492556.5:n.457del (CHKB-CPT1B)
ENST00000492582.5:n.346del (CHKB)
NM_005198.4:c.224+49del , LRG_855t1:c.224+49del (CHKB)	NP_005189.2:n.224+49del
NR_027928.2:n.442+49del (CHKB-CPT1B)
NM_005198.5:c.224+49del (CHKB) MANE Select	NP_005189.2:n.224+49del