Canonical Allele Identifier: CA2410936430
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582450_50582471delinsCAGGCGCGGGCGCAAGAGGGGG , CM000684.2:g.50582450_50582471delinsCAGGCGCGGGCGCAAGAGGGGG GRCh38
NC_000022.10:g.51020879_51020900delinsCAGGCGCGGGCGCAAGAGGGGG , CM000684.1:g.51020879_51020900delinsCAGGCGCGGGCGCAAGAGGGGG GRCh37
NC_000022.9:g.49367745_49367766delinsCAGGCGCGGGCGCAAGAGGGGG NCBI36
NG_012643.1:g.1197_1218delinsCCCCCTCTTGCGCCCGCGCCTG
NG_029213.1:g.5529_5550delinsCCCCCTCTTGCGCCCGCGCCTG , LRG_855:g.5529_5550delinsCCCCCTCTTGCGCCCGCGCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB) MANE Select ENSP00000384400.3:n.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG...
ENST00000406938.2:c.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB) ENSP00000384400.2:n.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG...
ENST00000463053.1:n.307-114_307-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
ENST00000476289.5:n.384_405delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
ENST00000479003.5:n.350_371delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
ENST00000481673.5:n.288+87_289-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
ENST00000484266.5:n.354_375delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
ENST00000492556.5:n.495_516delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB-CPT1B)
ENST00000492582.5:n.384_405delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB)
NM_005198.4:c.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG , LRG_855t1:c.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB) NP_005189.2:n.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG
NR_027928.2:n.442+87_443-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB-CPT1B)
NM_005198.5:c.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG (CHKB) MANE Select NP_005189.2:n.224+87_225-93delinsCCCCCTCTTGCGCCCGCGCCTG