Canonical Allele Identifier: CA2410936373

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070713461
• gnomAD v4: 22-50582388-G-GCGGCCGGCCCTACCTGCCGCGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582394_50582418dup , CM000684.2:g.50582394_50582418dup	GRCh38
NC_000022.10:g.51020823_51020847dup , CM000684.1:g.51020823_51020847dup	GRCh37
NC_000022.9:g.49367689_49367713dup	NCBI36
NG_012643.1:g.1255_1279dup
NG_029213.1:g.5587_5611dup , LRG_855:g.5587_5611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-56_225-32dup (CHKB) MANE Select	ENSP00000384400.3:n.225-56_225-32dup
ENST00000406938.2:c.225-56_225-32dup (CHKB)	ENSP00000384400.2:n.225-56_225-32dup
ENST00000463053.1:n.307-56_307-32dup (CHKB)
ENST00000465842.1:n.8_32dup (CHKB)
ENST00000468532.5:n.46_70dup (CHKB)
ENST00000476289.5:n.442_466dup (CHKB)
ENST00000479003.5:n.408_432dup (CHKB)
ENST00000481673.5:n.289-56_289-32dup (CHKB)
ENST00000484266.5:n.412_436dup (CHKB)
ENST00000492556.5:n.553_577dup (CHKB-CPT1B)
ENST00000492582.5:n.442_466dup (CHKB)
NM_005198.4:c.225-56_225-32dup , LRG_855t1:c.225-56_225-32dup (CHKB)	NP_005189.2:n.225-56_225-32dup
NR_027928.2:n.443-56_443-32dup (CHKB-CPT1B)
NM_005198.5:c.225-56_225-32dup (CHKB) MANE Select	NP_005189.2:n.225-56_225-32dup