Canonical Allele Identifier: CA2410936435
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582456_50582477delinsCGGGCGCAAGAGGGGGGCGAAA , CM000684.2:g.50582456_50582477delinsCGGGCGCAAGAGGGGGGCGAAA GRCh38
NC_000022.10:g.51020885_51020906delinsCGGGCGCAAGAGGGGGGCGAAA , CM000684.1:g.51020885_51020906delinsCGGGCGCAAGAGGGGGGCGAAA GRCh37
NC_000022.9:g.49367751_49367772delinsCGGGCGCAAGAGGGGGGCGAAA NCBI36
NG_012643.1:g.1191_1212delinsTTTCGCCCCCCTCTTGCGCCCG
NG_029213.1:g.5523_5544delinsTTTCGCCCCCCTCTTGCGCCCG , LRG_855:g.5523_5544delinsTTTCGCCCCCCTCTTGCGCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB) MANE Select ENSP00000384400.3:n.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG...
ENST00000406938.2:c.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB) ENSP00000384400.2:n.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG...
ENST00000463053.1:n.307-120_307-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
ENST00000476289.5:n.378_399delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
ENST00000479003.5:n.344_365delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
ENST00000481673.5:n.288+81_289-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
ENST00000484266.5:n.348_369delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
ENST00000492556.5:n.489_510delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB-CPT1B)
ENST00000492582.5:n.378_399delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB)
NM_005198.4:c.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG , LRG_855t1:c.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB) NP_005189.2:n.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG
NR_027928.2:n.442+81_443-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB-CPT1B)
NM_005198.5:c.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG (CHKB) MANE Select NP_005189.2:n.224+81_225-99delinsTTTCGCCCCCCTCTTGCGCCCG