Canonical Allele Identifier: CA640055280

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs545858755
• gnomAD v2: 22-51020446-TG-T
• gnomAD v3: 22-50582017-TG-T
• gnomAD v4: 22-50582017-TG-T
• MyVariant Identifiers: chr22:g.51020447del (hg19) ; chr22:g.50582018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582022del , CM000684.2:g.50582022del	GRCh38
NC_000022.10:g.51020451del , CM000684.1:g.51020451del	GRCh37
NC_000022.9:g.49367317del	NCBI36
NG_012643.1:g.1650del
NG_029213.1:g.5982del , LRG_855:g.5982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-156del (CHKB) MANE Select	ENSP00000384400.3:n.334-156del
ENST00000406938.2:c.334-156del (CHKB)	ENSP00000384400.2:n.334-156del
ENST00000463053.1:n.482+11del (CHKB)
ENST00000465842.1:n.173-156del (CHKB)
ENST00000468532.5:n.211-156del (CHKB)
ENST00000476289.5:n.607-156del (CHKB)
ENST00000479003.5:n.803del (CHKB)
ENST00000481673.5:n.628del (CHKB)
ENST00000484266.5:n.576+231del (CHKB)
ENST00000492556.5:n.948del (CHKB-CPT1B)
ENST00000492582.5:n.837del (CHKB)
NM_005198.4:c.334-156del , LRG_855t1:c.334-156del (CHKB)	NP_005189.2:n.334-156del
NR_027928.2:n.552-156del (CHKB-CPT1B)
NM_005198.5:c.334-156del (CHKB) MANE Select	NP_005189.2:n.334-156del