Canonical Allele Identifier: CA2657584015

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582002-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582006_50582007dup , CM000684.2:g.50582006_50582007dup	GRCh38
NC_000022.10:g.51020435_51020436dup , CM000684.1:g.51020435_51020436dup	GRCh37
NC_000022.9:g.49367301_49367302dup	NCBI36
NG_012643.1:g.1664_1665dup
NG_029213.1:g.5996_5997dup , LRG_855:g.5996_5997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-142_334-141dup (CHKB) MANE Select	ENSP00000384400.3:n.334-142_334-141dup
ENST00000406938.2:c.334-142_334-141dup (CHKB)	ENSP00000384400.2:n.334-142_334-141dup
ENST00000463053.1:n.482+25_482+26dup (CHKB)
ENST00000465842.1:n.173-142_173-141dup (CHKB)
ENST00000468532.5:n.211-142_211-141dup (CHKB)
ENST00000476289.5:n.607-142_607-141dup (CHKB)
ENST00000479003.5:n.817_818dup (CHKB)
ENST00000481673.5:n.642_643dup (CHKB)
ENST00000484266.5:n.576+245_576+246dup (CHKB)
ENST00000492556.5:n.962_963dup (CHKB-CPT1B)
ENST00000492582.5:n.851_852dup (CHKB)
NM_005198.4:c.334-142_334-141dup , LRG_855t1:c.334-142_334-141dup (CHKB)	NP_005189.2:n.334-142_334-141dup
NR_027928.2:n.552-142_552-141dup (CHKB-CPT1B)
NM_005198.5:c.334-142_334-141dup (CHKB) MANE Select	NP_005189.2:n.334-142_334-141dup