Canonical Allele Identifier: CA2657584080

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582077-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582079_50582081del , CM000684.2:g.50582079_50582081del	GRCh38
NC_000022.10:g.51020508_51020510del , CM000684.1:g.51020508_51020510del	GRCh37
NC_000022.9:g.49367374_49367376del	NCBI36
NG_012643.1:g.1588_1590del
NG_029213.1:g.5920_5922del , LRG_855:g.5920_5922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+169_333+171del (CHKB) MANE Select	ENSP00000384400.3:n.333+169_333+171del
ENST00000406938.2:c.333+169_333+171del (CHKB)	ENSP00000384400.2:n.333+169_333+171del
ENST00000463053.1:n.431_433del (CHKB)
ENST00000465842.1:n.172+169_172+171del (CHKB)
ENST00000468532.5:n.210+169_210+171del (CHKB)
ENST00000476289.5:n.606+169_606+171del (CHKB)
ENST00000479003.5:n.741_743del (CHKB)
ENST00000481673.5:n.566_568del (CHKB)
ENST00000484266.5:n.576+169_576+171del (CHKB)
ENST00000492556.5:n.886_888del (CHKB-CPT1B)
ENST00000492582.5:n.775_777del (CHKB)
NM_005198.4:c.333+169_333+171del , LRG_855t1:c.333+169_333+171del (CHKB)	NP_005189.2:n.333+169_333+171del
NR_027928.2:n.551+169_551+171del (CHKB-CPT1B)
NM_005198.5:c.333+169_333+171del (CHKB) MANE Select	NP_005189.2:n.333+169_333+171del