Canonical Allele Identifier: CA1026671857

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070716507
• gnomAD v3: 22-50582454-CG-C
• gnomAD v4: 22-50582454-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582455del , CM000684.2:g.50582455del	GRCh38
NC_000022.10:g.51020884del , CM000684.1:g.51020884del	GRCh37
NC_000022.9:g.49367750del	NCBI36
NG_012643.1:g.1213del
NG_029213.1:g.5545del , LRG_855:g.5545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-98del (CHKB) MANE Select	ENSP00000384400.3:n.225-98del
ENST00000406938.2:c.225-98del (CHKB)	ENSP00000384400.2:n.225-98del
ENST00000463053.1:n.307-98del (CHKB)
ENST00000468532.5:n.4del (CHKB)
ENST00000476289.5:n.400del (CHKB)
ENST00000479003.5:n.366del (CHKB)
ENST00000481673.5:n.289-98del (CHKB)
ENST00000484266.5:n.370del (CHKB)
ENST00000492556.5:n.511del (CHKB-CPT1B)
ENST00000492582.5:n.400del (CHKB)
NM_005198.4:c.225-98del , LRG_855t1:c.225-98del (CHKB)	NP_005189.2:n.225-98del
NR_027928.2:n.443-98del (CHKB-CPT1B)
NM_005198.5:c.225-98del (CHKB) MANE Select	NP_005189.2:n.225-98del