Canonical Allele Identifier: CA1026671814

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070713302
• gnomAD v3: 22-50582385-CCCGCGGCCGGCCCTACCTG-C
• gnomAD v4: 22-50582385-CCCGCGGCCGGCCCTACCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582394_50582412del , CM000684.2:g.50582394_50582412del	GRCh38
NC_000022.10:g.51020823_51020841del , CM000684.1:g.51020823_51020841del	GRCh37
NC_000022.9:g.49367689_49367707del	NCBI36
NG_012643.1:g.1264_1282del
NG_029213.1:g.5596_5614del , LRG_855:g.5596_5614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-47_225-29del (CHKB) MANE Select	ENSP00000384400.3:n.225-47_225-29del
ENST00000406938.2:c.225-47_225-29del (CHKB)	ENSP00000384400.2:n.225-47_225-29del
ENST00000463053.1:n.307-47_307-29del (CHKB)
ENST00000465842.1:n.17_35del (CHKB)
ENST00000468532.5:n.55_73del (CHKB)
ENST00000476289.5:n.451_469del (CHKB)
ENST00000479003.5:n.417_435del (CHKB)
ENST00000481673.5:n.289-47_289-29del (CHKB)
ENST00000484266.5:n.421_439del (CHKB)
ENST00000492556.5:n.562_580del (CHKB-CPT1B)
ENST00000492582.5:n.451_469del (CHKB)
NM_005198.4:c.225-47_225-29del , LRG_855t1:c.225-47_225-29del (CHKB)	NP_005189.2:n.225-47_225-29del
NR_027928.2:n.443-47_443-29del (CHKB-CPT1B)
NM_005198.5:c.225-47_225-29del (CHKB) MANE Select	NP_005189.2:n.225-47_225-29del