Canonical Allele Identifier: CA2410936454

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070717391

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582474_50582476del , CM000684.2:g.50582474_50582476del	GRCh38
NC_000022.10:g.51020903_51020905del , CM000684.1:g.51020903_51020905del	GRCh37
NC_000022.9:g.49367769_49367771del	NCBI36
NG_012643.1:g.1192_1194del
NG_029213.1:g.5524_5526del , LRG_855:g.5524_5526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+82_224+84del (CHKB) MANE Select	ENSP00000384400.3:n.224+82_224+84del
ENST00000406938.2:c.224+82_224+84del (CHKB)	ENSP00000384400.2:n.224+82_224+84del
ENST00000463053.1:n.307-119_307-117del (CHKB)
ENST00000476289.5:n.379_381del (CHKB)
ENST00000479003.5:n.345_347del (CHKB)
ENST00000481673.5:n.288+82_288+84del (CHKB)
ENST00000484266.5:n.349_351del (CHKB)
ENST00000492556.5:n.490_492del (CHKB-CPT1B)
ENST00000492582.5:n.379_381del (CHKB)
NM_005198.4:c.224+82_224+84del , LRG_855t1:c.224+82_224+84del (CHKB)	NP_005189.2:n.224+82_224+84del
NR_027928.2:n.442+82_442+84del (CHKB-CPT1B)
NM_005198.5:c.224+82_224+84del (CHKB) MANE Select	NP_005189.2:n.224+82_224+84del