Canonical Allele Identifier: CA754073337

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1447082502
• MyVariant Identifiers: chr22:g.51020461_51020462insT (hg19) ; chr22:g.50582032_50582033insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582034dup , CM000684.2:g.50582034dup	GRCh38
NC_000022.10:g.51020463dup , CM000684.1:g.51020463dup	GRCh37
NC_000022.9:g.49367329dup	NCBI36
NG_012643.1:g.1635dup
NG_029213.1:g.5967dup , LRG_855:g.5967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-171dup (CHKB) MANE Select	ENSP00000384400.3:n.334-171dup
ENST00000406938.2:c.334-171dup (CHKB)	ENSP00000384400.2:n.334-171dup
ENST00000463053.1:n.478dup (CHKB)
ENST00000465842.1:n.173-171dup (CHKB)
ENST00000468532.5:n.211-171dup (CHKB)
ENST00000476289.5:n.607-171dup (CHKB)
ENST00000479003.5:n.788dup (CHKB)
ENST00000481673.5:n.613dup (CHKB)
ENST00000484266.5:n.576+216dup (CHKB)
ENST00000492556.5:n.933dup (CHKB-CPT1B)
ENST00000492582.5:n.822dup (CHKB)
NM_005198.4:c.334-171dup , LRG_855t1:c.334-171dup (CHKB)	NP_005189.2:n.334-171dup
NR_027928.2:n.552-171dup (CHKB-CPT1B)
NM_005198.5:c.334-171dup (CHKB) MANE Select	NP_005189.2:n.334-171dup