Canonical Allele Identifier: CA2657584415

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582321-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582322del , CM000684.2:g.50582322del	GRCh38
NC_000022.10:g.51020751del , CM000684.1:g.51020751del	GRCh37
NC_000022.9:g.49367617del	NCBI36
NG_012643.1:g.1346del
NG_029213.1:g.5678del , LRG_855:g.5678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.260del (CHKB) MANE Select	ENSP00000384400.3:p.Leu87ProfsTer?
ENST00000406938.2:c.260del (CHKB)	ENSP00000384400.2:p.Leu87ProfsTer?
ENST00000463053.1:n.342del (CHKB)
ENST00000465842.1:n.99del (CHKB)
ENST00000468532.5:n.137del (CHKB)
ENST00000476289.5:n.533del (CHKB)
ENST00000479003.5:n.499del (CHKB)
ENST00000481673.5:n.324del (CHKB)
ENST00000484266.5:n.503del (CHKB)
ENST00000492556.5:n.644del (CHKB-CPT1B)
ENST00000492582.5:n.533del (CHKB)
NM_005198.4:c.260del , LRG_855t1:c.260del (CHKB)	NP_005189.2:p.Leu87ProfsTer?
NR_027928.2:n.478del (CHKB-CPT1B)
NM_005198.5:c.260del (CHKB) MANE Select	NP_005189.2:p.Leu87ProfsTer?