Canonical Allele Identifier: CA640358365

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1569054777
• gnomAD v2: 22-51020940-CCT-C
• gnomAD v4: 22-50582511-CCT-C
• MyVariant Identifiers: chr22:g.51020941_51020942del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582512_50582513del , CM000684.2:g.50582512_50582513del	GRCh38
NC_000022.10:g.51020941_51020942del , CM000684.1:g.51020941_51020942del	GRCh37
NC_000022.9:g.49367807_49367808del	NCBI36
NG_012643.1:g.1155_1156del
NG_029213.1:g.5487_5488del , LRG_855:g.5487_5488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+45_224+46del (CHKB) MANE Select	ENSP00000384400.3:n.224+45_224+46del
ENST00000406938.2:c.224+45_224+46del (CHKB)	ENSP00000384400.2:n.224+45_224+46del
ENST00000463053.1:n.307-156_307-155del (CHKB)
ENST00000476289.5:n.342_343del (CHKB)
ENST00000479003.5:n.308_309del (CHKB)
ENST00000481673.5:n.288+45_288+46del (CHKB)
ENST00000484266.5:n.312_313del (CHKB)
ENST00000492556.5:n.453_454del (CHKB-CPT1B)
ENST00000492582.5:n.342_343del (CHKB)
NM_005198.4:c.224+45_224+46del , LRG_855t1:c.224+45_224+46del (CHKB)	NP_005189.2:n.224+45_224+46del
NR_027928.2:n.442+45_442+46del (CHKB-CPT1B)
NM_005198.5:c.224+45_224+46del (CHKB) MANE Select	NP_005189.2:n.224+45_224+46del