Canonical Allele Identifier: CA2657584464

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582404-GCCGCGGCCCCGGCCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582407_50582424del , CM000684.2:g.50582407_50582424del	GRCh38
NC_000022.10:g.51020836_51020853del , CM000684.1:g.51020836_51020853del	GRCh37
NC_000022.9:g.49367702_49367719del	NCBI36
NG_012643.1:g.1246_1263del
NG_029213.1:g.5578_5595del , LRG_855:g.5578_5595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-65_225-48del (CHKB) MANE Select	ENSP00000384400.3:n.225-65_225-48del
ENST00000406938.2:c.225-65_225-48del (CHKB)	ENSP00000384400.2:n.225-65_225-48del
ENST00000463053.1:n.307-65_307-48del (CHKB)
ENST00000468532.5:n.37_54del (CHKB)
ENST00000476289.5:n.433_450del (CHKB)
ENST00000479003.5:n.399_416del (CHKB)
ENST00000481673.5:n.289-65_289-48del (CHKB)
ENST00000484266.5:n.403_420del (CHKB)
ENST00000492556.5:n.544_561del (CHKB-CPT1B)
ENST00000492582.5:n.433_450del (CHKB)
NM_005198.4:c.225-65_225-48del , LRG_855t1:c.225-65_225-48del (CHKB)	NP_005189.2:n.225-65_225-48del
NR_027928.2:n.443-65_443-48del (CHKB-CPT1B)
NM_005198.5:c.225-65_225-48del (CHKB) MANE Select	NP_005189.2:n.225-65_225-48del