Canonical Allele Identifier: CA325538477

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1014607048
• MyVariant Identifiers: chr22:g.51020437_51020438insTTTAGAG (hg19) ; chr22:g.50582008_50582009insTTTAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582009_50582015dup , CM000684.2:g.50582009_50582015dup	GRCh38
NC_000022.10:g.51020438_51020444dup , CM000684.1:g.51020438_51020444dup	GRCh37
NC_000022.9:g.49367304_49367310dup	NCBI36
NG_012643.1:g.1653_1659dup
NG_029213.1:g.5985_5991dup , LRG_855:g.5985_5991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-153_334-147dup (CHKB) MANE Select	ENSP00000384400.3:n.334-153_334-147dup
ENST00000406938.2:c.334-153_334-147dup (CHKB)	ENSP00000384400.2:n.334-153_334-147dup
ENST00000463053.1:n.482+14_482+20dup (CHKB)
ENST00000465842.1:n.173-153_173-147dup (CHKB)
ENST00000468532.5:n.211-153_211-147dup (CHKB)
ENST00000476289.5:n.607-153_607-147dup (CHKB)
ENST00000479003.5:n.806_812dup (CHKB)
ENST00000481673.5:n.631_637dup (CHKB)
ENST00000484266.5:n.576+234_576+240dup (CHKB)
ENST00000492556.5:n.951_957dup (CHKB-CPT1B)
ENST00000492582.5:n.840_846dup (CHKB)
NM_005198.4:c.334-153_334-147dup , LRG_855t1:c.334-153_334-147dup (CHKB)	NP_005189.2:n.334-153_334-147dup
NR_027928.2:n.552-153_552-147dup (CHKB-CPT1B)
NM_005198.5:c.334-153_334-147dup (CHKB) MANE Select	NP_005189.2:n.334-153_334-147dup