Canonical Allele Identifier: CA754073669

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1291624350
• gnomAD v3: 22-50582487-AT-A
• gnomAD v4: 22-50582487-AT-A
• MyVariant Identifiers: chr22:g.51020917del (hg19) ; chr22:g.50582488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582488del , CM000684.2:g.50582488del	GRCh38
NC_000022.10:g.51020917del , CM000684.1:g.51020917del	GRCh37
NC_000022.9:g.49367783del	NCBI36
NG_012643.1:g.1180del
NG_029213.1:g.5512del , LRG_855:g.5512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+70del (CHKB) MANE Select	ENSP00000384400.3:n.224+70del
ENST00000406938.2:c.224+70del (CHKB)	ENSP00000384400.2:n.224+70del
ENST00000463053.1:n.307-131del (CHKB)
ENST00000476289.5:n.367del (CHKB)
ENST00000479003.5:n.333del (CHKB)
ENST00000481673.5:n.288+70del (CHKB)
ENST00000484266.5:n.337del (CHKB)
ENST00000492556.5:n.478del (CHKB-CPT1B)
ENST00000492582.5:n.367del (CHKB)
NM_005198.4:c.224+70del , LRG_855t1:c.224+70del (CHKB)	NP_005189.2:n.224+70del
NR_027928.2:n.442+70del (CHKB-CPT1B)
NM_005198.5:c.224+70del (CHKB) MANE Select	NP_005189.2:n.224+70del