Canonical Allele Identifier: CA2577767428

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582403_50582408dup , CM000684.2:g.50582403_50582408dup	GRCh38
NC_000022.10:g.51020832_51020837dup , CM000684.1:g.51020832_51020837dup	GRCh37
NC_000022.9:g.49367698_49367703dup	NCBI36
NG_012643.1:g.1261_1266dup
NG_029213.1:g.5593_5598dup , LRG_855:g.5593_5598dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-50_225-45dup (CHKB) MANE Select	ENSP00000384400.3:n.225-50_225-45dup
ENST00000406938.2:c.225-50_225-45dup (CHKB)	ENSP00000384400.2:n.225-50_225-45dup
ENST00000463053.1:n.307-50_307-45dup (CHKB)
ENST00000465842.1:n.14_19dup (CHKB)
ENST00000468532.5:n.52_57dup (CHKB)
ENST00000476289.5:n.448_453dup (CHKB)
ENST00000479003.5:n.414_419dup (CHKB)
ENST00000481673.5:n.289-50_289-45dup (CHKB)
ENST00000484266.5:n.418_423dup (CHKB)
ENST00000492556.5:n.559_564dup (CHKB-CPT1B)
ENST00000492582.5:n.448_453dup (CHKB)
NM_005198.4:c.225-50_225-45dup , LRG_855t1:c.225-50_225-45dup (CHKB)	NP_005189.2:n.225-50_225-45dup
NR_027928.2:n.443-50_443-45dup (CHKB-CPT1B)
NM_005198.5:c.225-50_225-45dup (CHKB) MANE Select	NP_005189.2:n.225-50_225-45dup