Canonical Allele Identifier: CA2657584608

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582504-GCTGACCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582513_50582519del , CM000684.2:g.50582513_50582519del	GRCh38
NC_000022.10:g.51020942_51020948del , CM000684.1:g.51020942_51020948del	GRCh37
NC_000022.9:g.49367808_49367814del	NCBI36
NG_012643.1:g.1157_1163del
NG_029213.1:g.5489_5495del , LRG_855:g.5489_5495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+47_224+53del (CHKB) MANE Select	ENSP00000384400.3:n.224+47_224+53del
ENST00000406938.2:c.224+47_224+53del (CHKB)	ENSP00000384400.2:n.224+47_224+53del
ENST00000463053.1:n.307-154_307-148del (CHKB)
ENST00000476289.5:n.344_350del (CHKB)
ENST00000479003.5:n.310_316del (CHKB)
ENST00000481673.5:n.288+47_288+53del (CHKB)
ENST00000484266.5:n.314_320del (CHKB)
ENST00000492556.5:n.455_461del (CHKB-CPT1B)
ENST00000492582.5:n.344_350del (CHKB)
NM_005198.4:c.224+47_224+53del , LRG_855t1:c.224+47_224+53del (CHKB)	NP_005189.2:n.224+47_224+53del
NR_027928.2:n.442+47_442+53del (CHKB-CPT1B)
NM_005198.5:c.224+47_224+53del (CHKB) MANE Select	NP_005189.2:n.224+47_224+53del