Canonical Allele Identifier: CA2591982491

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2146658118
• gnomAD v3: 22-50582425-C-CGGCCAGGCCGGCCCCGCCCCG
• gnomAD v4: 22-50582425-C-CGGCCAGGCCGGCCCCGCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582426_50582446dup , CM000684.2:g.50582426_50582446dup	GRCh38
NC_000022.10:g.51020855_51020875dup , CM000684.1:g.51020855_51020875dup	GRCh37
NC_000022.9:g.49367721_49367741dup	NCBI36
NG_012643.1:g.1222_1242dup
NG_029213.1:g.5554_5574dup , LRG_855:g.5554_5574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-89_225-69dup (CHKB) MANE Select	ENSP00000384400.3:n.225-89_225-69dup
ENST00000406938.2:c.225-89_225-69dup (CHKB)	ENSP00000384400.2:n.225-89_225-69dup
ENST00000463053.1:n.307-89_307-69dup (CHKB)
ENST00000468532.5:n.13_33dup (CHKB)
ENST00000476289.5:n.409_429dup (CHKB)
ENST00000479003.5:n.375_395dup (CHKB)
ENST00000481673.5:n.289-89_289-69dup (CHKB)
ENST00000484266.5:n.379_399dup (CHKB)
ENST00000492556.5:n.520_540dup (CHKB-CPT1B)
ENST00000492582.5:n.409_429dup (CHKB)
NM_005198.4:c.225-89_225-69dup , LRG_855t1:c.225-89_225-69dup (CHKB)	NP_005189.2:n.225-89_225-69dup
NR_027928.2:n.443-89_443-69dup (CHKB-CPT1B)
NM_005198.5:c.225-89_225-69dup (CHKB) MANE Select	NP_005189.2:n.225-89_225-69dup