Canonical Allele Identifier: CA2410936429

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582450_50582452delinsCAG , CM000684.2:g.50582450_50582452delinsCAG	GRCh38
NC_000022.10:g.51020879_51020881delinsCAG , CM000684.1:g.51020879_51020881delinsCAG	GRCh37
NC_000022.9:g.49367745_49367747delinsCAG	NCBI36
NG_012643.1:g.1216_1218delinsCTG
NG_029213.1:g.5548_5550delinsCTG , LRG_855:g.5548_5550delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-95_225-93delinsCTG (CHKB) MANE Select	ENSP00000384400.3:n.225-95_225-93delinsCTG
ENST00000406938.2:c.225-95_225-93delinsCTG (CHKB)	ENSP00000384400.2:n.225-95_225-93delinsCTG
ENST00000463053.1:n.307-95_307-93delinsCTG (CHKB)
ENST00000468532.5:n.7_9delinsCTG (CHKB)
ENST00000476289.5:n.403_405delinsCTG (CHKB)
ENST00000479003.5:n.369_371delinsCTG (CHKB)
ENST00000481673.5:n.289-95_289-93delinsCTG (CHKB)
ENST00000484266.5:n.373_375delinsCTG (CHKB)
ENST00000492556.5:n.514_516delinsCTG (CHKB-CPT1B)
ENST00000492582.5:n.403_405delinsCTG (CHKB)
NM_005198.4:c.225-95_225-93delinsCTG , LRG_855t1:c.225-95_225-93delinsCTG (CHKB)	NP_005189.2:n.225-95_225-93delinsCTG
NR_027928.2:n.443-95_443-93delinsCTG (CHKB-CPT1B)
NM_005198.5:c.225-95_225-93delinsCTG (CHKB) MANE Select	NP_005189.2:n.225-95_225-93delinsCTG