Canonical Allele Identifier: CA10323877

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs770234068
• ExAC: 22:51020981 TC / T
• gnomAD v2: 22-51020981-TC-T
• MyVariant Identifiers: chr22:g.51020982del (hg19) ; chr22:g.50582553del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582555del , CM000684.2:g.50582555del	GRCh38
NC_000022.10:g.51020984del , CM000684.1:g.51020984del	GRCh37
NC_000022.9:g.49367850del	NCBI36
NG_012643.1:g.1115del
NG_029213.1:g.5447del , LRG_855:g.5447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+5del (CHKB) MANE Select	ENSP00000384400.3:n.224+5del
ENST00000406938.2:c.224+5del (CHKB)	ENSP00000384400.2:n.224+5del
ENST00000463053.1:n.307-196del (CHKB)
ENST00000476289.5:n.302del (CHKB)
ENST00000479003.5:n.268del (CHKB)
ENST00000481673.5:n.288+5del (CHKB)
ENST00000484266.5:n.272del (CHKB)
ENST00000492556.5:n.413del (CHKB-CPT1B)
ENST00000492582.5:n.302del (CHKB)
NM_005198.4:c.224+5del , LRG_855t1:c.224+5del (CHKB)	NP_005189.2:n.224+5del
NR_027928.2:n.442+5del (CHKB-CPT1B)
NM_005198.5:c.224+5del (CHKB) MANE Select	NP_005189.2:n.224+5del