Canonical Allele Identifier: CA1026671856

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070716264
• gnomAD v3: 22-50582450-CAG-C
• gnomAD v4: 22-50582450-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582451_50582452del , CM000684.2:g.50582451_50582452del	GRCh38
NC_000022.10:g.51020880_51020881del , CM000684.1:g.51020880_51020881del	GRCh37
NC_000022.9:g.49367746_49367747del	NCBI36
NG_012643.1:g.1216_1217del
NG_029213.1:g.5548_5549del , LRG_855:g.5548_5549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-95_225-94del (CHKB) MANE Select	ENSP00000384400.3:n.225-95_225-94del
ENST00000406938.2:c.225-95_225-94del (CHKB)	ENSP00000384400.2:n.225-95_225-94del
ENST00000463053.1:n.307-95_307-94del (CHKB)
ENST00000468532.5:n.7_8del (CHKB)
ENST00000476289.5:n.403_404del (CHKB)
ENST00000479003.5:n.369_370del (CHKB)
ENST00000481673.5:n.289-95_289-94del (CHKB)
ENST00000484266.5:n.373_374del (CHKB)
ENST00000492556.5:n.514_515del (CHKB-CPT1B)
ENST00000492582.5:n.403_404del (CHKB)
NM_005198.4:c.225-95_225-94del , LRG_855t1:c.225-95_225-94del (CHKB)	NP_005189.2:n.225-95_225-94del
NR_027928.2:n.443-95_443-94del (CHKB-CPT1B)
NM_005198.5:c.225-95_225-94del (CHKB) MANE Select	NP_005189.2:n.225-95_225-94del