Canonical Allele Identifier: CA2410936466

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582487_50582488delinsAT , CM000684.2:g.50582487_50582488delinsAT	GRCh38
NC_000022.10:g.51020916_51020917delinsAT , CM000684.1:g.51020916_51020917delinsAT	GRCh37
NC_000022.9:g.49367782_49367783delinsAT	NCBI36
NG_012643.1:g.1180_1181delinsAT
NG_029213.1:g.5512_5513delinsAT , LRG_855:g.5512_5513delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+70_224+71delinsAT (CHKB) MANE Select	ENSP00000384400.3:n.224+70_224+71delinsAT
ENST00000406938.2:c.224+70_224+71delinsAT (CHKB)	ENSP00000384400.2:n.224+70_224+71delinsAT
ENST00000463053.1:n.307-131_307-130delinsAT (CHKB)
ENST00000476289.5:n.367_368delinsAT (CHKB)
ENST00000479003.5:n.333_334delinsAT (CHKB)
ENST00000481673.5:n.288+70_288+71delinsAT (CHKB)
ENST00000484266.5:n.337_338delinsAT (CHKB)
ENST00000492556.5:n.478_479delinsAT (CHKB-CPT1B)
ENST00000492582.5:n.367_368delinsAT (CHKB)
NM_005198.4:c.224+70_224+71delinsAT , LRG_855t1:c.224+70_224+71delinsAT (CHKB)	NP_005189.2:n.224+70_224+71delinsAT
NR_027928.2:n.442+70_442+71delinsAT (CHKB-CPT1B)
NM_005198.5:c.224+70_224+71delinsAT (CHKB) MANE Select	NP_005189.2:n.224+70_224+71delinsAT