Canonical Allele Identifier: CA2410936482

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582511_50582513delinsCCT , CM000684.2:g.50582511_50582513delinsCCT	GRCh38
NC_000022.10:g.51020940_51020942delinsCCT , CM000684.1:g.51020940_51020942delinsCCT	GRCh37
NC_000022.9:g.49367806_49367808delinsCCT	NCBI36
NG_012643.1:g.1155_1157delinsAGG
NG_029213.1:g.5487_5489delinsAGG , LRG_855:g.5487_5489delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+45_224+47delinsAGG (CHKB) MANE Select	ENSP00000384400.3:n.224+45_224+47delinsAGG
ENST00000406938.2:c.224+45_224+47delinsAGG (CHKB)	ENSP00000384400.2:n.224+45_224+47delinsAGG
ENST00000463053.1:n.307-156_307-154delinsAGG (CHKB)
ENST00000476289.5:n.342_344delinsAGG (CHKB)
ENST00000479003.5:n.308_310delinsAGG (CHKB)
ENST00000481673.5:n.288+45_288+47delinsAGG (CHKB)
ENST00000484266.5:n.312_314delinsAGG (CHKB)
ENST00000492556.5:n.453_455delinsAGG (CHKB-CPT1B)
ENST00000492582.5:n.342_344delinsAGG (CHKB)
NM_005198.4:c.224+45_224+47delinsAGG , LRG_855t1:c.224+45_224+47delinsAGG (CHKB)	NP_005189.2:n.224+45_224+47delinsAGG
NR_027928.2:n.442+45_442+47delinsAGG (CHKB-CPT1B)
NM_005198.5:c.224+45_224+47delinsAGG (CHKB) MANE Select	NP_005189.2:n.224+45_224+47delinsAGG