Canonical Allele Identifier: CA10323869

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs746369567
• ExAC: 22:51020934 C / CT
• gnomAD v2: 22-51020934-C-CT
• gnomAD v4: 22-50582505-C-CT
• MyVariant Identifiers: chr22:g.51020934_51020935insT (hg19) ; chr22:g.50582505_50582506insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582506dup , CM000684.2:g.50582506dup	GRCh38
NC_000022.10:g.51020935dup , CM000684.1:g.51020935dup	GRCh37
NC_000022.9:g.49367801dup	NCBI36
NG_012643.1:g.1162dup
NG_029213.1:g.5494dup , LRG_855:g.5494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+52dup (CHKB) MANE Select	ENSP00000384400.3:n.224+52dup
ENST00000406938.2:c.224+52dup (CHKB)	ENSP00000384400.2:n.224+52dup
ENST00000463053.1:n.307-149dup (CHKB)
ENST00000476289.5:n.349dup (CHKB)
ENST00000479003.5:n.315dup (CHKB)
ENST00000481673.5:n.288+52dup (CHKB)
ENST00000484266.5:n.319dup (CHKB)
ENST00000492556.5:n.460dup (CHKB-CPT1B)
ENST00000492582.5:n.349dup (CHKB)
NM_005198.4:c.224+52dup , LRG_855t1:c.224+52dup (CHKB)	NP_005189.2:n.224+52dup
NR_027928.2:n.442+52dup (CHKB-CPT1B)
NM_005198.5:c.224+52dup (CHKB) MANE Select	NP_005189.2:n.224+52dup