Canonical Allele Identifier: CA2657584595

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582502-CGGCTGACCCCTGACCCCGATCCGCGCACCGGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582518_50582551del , CM000684.2:g.50582518_50582551del	GRCh38
NC_000022.10:g.51020947_51020980del , CM000684.1:g.51020947_51020980del	GRCh37
NC_000022.9:g.49367813_49367846del	NCBI36
NG_012643.1:g.1132_1165del
NG_029213.1:g.5464_5497del , LRG_855:g.5464_5497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+22_224+55del (CHKB) MANE Select	ENSP00000384400.3:n.224+22_224+55del
ENST00000406938.2:c.224+22_224+55del (CHKB)	ENSP00000384400.2:n.224+22_224+55del
ENST00000463053.1:n.307-179_307-146del (CHKB)
ENST00000476289.5:n.319_352del (CHKB)
ENST00000479003.5:n.285_318del (CHKB)
ENST00000481673.5:n.288+22_288+55del (CHKB)
ENST00000484266.5:n.289_322del (CHKB)
ENST00000492556.5:n.430_463del (CHKB-CPT1B)
ENST00000492582.5:n.319_352del (CHKB)
NM_005198.4:c.224+22_224+55del , LRG_855t1:c.224+22_224+55del (CHKB)	NP_005189.2:n.224+22_224+55del
NR_027928.2:n.442+22_442+55del (CHKB-CPT1B)
NM_005198.5:c.224+22_224+55del (CHKB) MANE Select	NP_005189.2:n.224+22_224+55del