Canonical Allele Identifier: CA2410936390
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582411_50582422delinsCCCCGGCCCCCT , CM000684.2:g.50582411_50582422delinsCCCCGGCCCCCT GRCh38
NC_000022.10:g.51020840_51020851delinsCCCCGGCCCCCT , CM000684.1:g.51020840_51020851delinsCCCCGGCCCCCT GRCh37
NC_000022.9:g.49367706_49367717delinsCCCCGGCCCCCT NCBI36
NG_012643.1:g.1246_1257delinsAGGGGGCCGGGG
NG_029213.1:g.5578_5589delinsAGGGGGCCGGGG , LRG_855:g.5578_5589delinsAGGGGGCCGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-65_225-54delinsAGGGGGCCGGGG (CHKB) MANE Select ENSP00000384400.3:n.225-65_225-54delinsAGGGGGCCGGGG
ENST00000406938.2:c.225-65_225-54delinsAGGGGGCCGGGG (CHKB) ENSP00000384400.2:n.225-65_225-54delinsAGGGGGCCGGGG
ENST00000463053.1:n.307-65_307-54delinsAGGGGGCCGGGG (CHKB)
ENST00000468532.5:n.37_48delinsAGGGGGCCGGGG (CHKB)
ENST00000476289.5:n.433_444delinsAGGGGGCCGGGG (CHKB)
ENST00000479003.5:n.399_410delinsAGGGGGCCGGGG (CHKB)
ENST00000481673.5:n.289-65_289-54delinsAGGGGGCCGGGG (CHKB)
ENST00000484266.5:n.403_414delinsAGGGGGCCGGGG (CHKB)
ENST00000492556.5:n.544_555delinsAGGGGGCCGGGG (CHKB-CPT1B)
ENST00000492582.5:n.433_444delinsAGGGGGCCGGGG (CHKB)
NM_005198.4:c.225-65_225-54delinsAGGGGGCCGGGG , LRG_855t1:c.225-65_225-54delinsAGGGGGCCGGGG (CHKB) NP_005189.2:n.225-65_225-54delinsAGGGGGCCGGGG
NR_027928.2:n.443-65_443-54delinsAGGGGGCCGGGG (CHKB-CPT1B)
NM_005198.5:c.225-65_225-54delinsAGGGGGCCGGGG (CHKB) MANE Select NP_005189.2:n.225-65_225-54delinsAGGGGGCCGGGG