Canonical Allele Identifier: CA640358346

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1213393369
• gnomAD v2: 22-51020861-G-GCCGGC
• gnomAD v3: 22-50582432-G-GCCGGC
• gnomAD v4: 22-50582432-G-GCCGGC
• MyVariant Identifiers: chr22:g.51020861_51020862insCCGGC (hg19) ; chr22:g.50582432_50582433insCCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582435_50582439dup , CM000684.2:g.50582435_50582439dup	GRCh38
NC_000022.10:g.51020864_51020868dup , CM000684.1:g.51020864_51020868dup	GRCh37
NC_000022.9:g.49367730_49367734dup	NCBI36
NG_012643.1:g.1231_1235dup
NG_029213.1:g.5563_5567dup , LRG_855:g.5563_5567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-80_225-76dup (CHKB) MANE Select	ENSP00000384400.3:n.225-80_225-76dup
ENST00000406938.2:c.225-80_225-76dup (CHKB)	ENSP00000384400.2:n.225-80_225-76dup
ENST00000463053.1:n.307-80_307-76dup (CHKB)
ENST00000468532.5:n.22_26dup (CHKB)
ENST00000476289.5:n.418_422dup (CHKB)
ENST00000479003.5:n.384_388dup (CHKB)
ENST00000481673.5:n.289-80_289-76dup (CHKB)
ENST00000484266.5:n.388_392dup (CHKB)
ENST00000492556.5:n.529_533dup (CHKB-CPT1B)
ENST00000492582.5:n.418_422dup (CHKB)
NM_005198.4:c.225-80_225-76dup , LRG_855t1:c.225-80_225-76dup (CHKB)	NP_005189.2:n.225-80_225-76dup
NR_027928.2:n.443-80_443-76dup (CHKB-CPT1B)
NM_005198.5:c.225-80_225-76dup (CHKB) MANE Select	NP_005189.2:n.225-80_225-76dup