Canonical Allele Identifier: CA1026671819

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v3: 22-50582388-GCGGCCGGCCCTACCTGCCGCGGCCC-G
• gnomAD v4: 22-50582388-GCGGCCGGCCCTACCTGCCGCGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582394_50582418del , CM000684.2:g.50582394_50582418del	GRCh38
NC_000022.10:g.51020823_51020847del , CM000684.1:g.51020823_51020847del	GRCh37
NC_000022.9:g.49367689_49367713del	NCBI36
NG_012643.1:g.1255_1279del
NG_029213.1:g.5587_5611del , LRG_855:g.5587_5611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-56_225-32del (CHKB) MANE Select	ENSP00000384400.3:n.225-56_225-32del
ENST00000406938.2:c.225-56_225-32del (CHKB)	ENSP00000384400.2:n.225-56_225-32del
ENST00000463053.1:n.307-56_307-32del (CHKB)
ENST00000465842.1:n.8_32del (CHKB)
ENST00000468532.5:n.46_70del (CHKB)
ENST00000476289.5:n.442_466del (CHKB)
ENST00000479003.5:n.408_432del (CHKB)
ENST00000481673.5:n.289-56_289-32del (CHKB)
ENST00000484266.5:n.412_436del (CHKB)
ENST00000492556.5:n.553_577del (CHKB-CPT1B)
ENST00000492582.5:n.442_466del (CHKB)
NM_005198.4:c.225-56_225-32del , LRG_855t1:c.225-56_225-32del (CHKB)	NP_005189.2:n.225-56_225-32del
NR_027928.2:n.443-56_443-32del (CHKB-CPT1B)
NM_005198.5:c.225-56_225-32del (CHKB) MANE Select	NP_005189.2:n.225-56_225-32del