Canonical Allele Identifier: CA2657584003

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581990-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581991_50581992dup , CM000684.2:g.50581991_50581992dup	GRCh38
NC_000022.10:g.51020420_51020421dup , CM000684.1:g.51020420_51020421dup	GRCh37
NC_000022.9:g.49367286_49367287dup	NCBI36
NG_012643.1:g.1676_1677dup
NG_029213.1:g.6008_6009dup , LRG_855:g.6008_6009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-130_334-129dup (CHKB) MANE Select	ENSP00000384400.3:n.334-130_334-129dup
ENST00000406938.2:c.334-130_334-129dup (CHKB)	ENSP00000384400.2:n.334-130_334-129dup
ENST00000463053.1:n.482+37_482+38dup (CHKB)
ENST00000465842.1:n.173-130_173-129dup (CHKB)
ENST00000468532.5:n.211-130_211-129dup (CHKB)
ENST00000476289.5:n.607-130_607-129dup (CHKB)
ENST00000479003.5:n.829_830dup (CHKB)
ENST00000481673.5:n.654_655dup (CHKB)
ENST00000484266.5:n.576+257_576+258dup (CHKB)
ENST00000492556.5:n.974_975dup (CHKB-CPT1B)
ENST00000492582.5:n.863_864dup (CHKB)
NM_005198.4:c.334-130_334-129dup , LRG_855t1:c.334-130_334-129dup (CHKB)	NP_005189.2:n.334-130_334-129dup
NR_027928.2:n.552-130_552-129dup (CHKB-CPT1B)
NM_005198.5:c.334-130_334-129dup (CHKB) MANE Select	NP_005189.2:n.334-130_334-129dup