Canonical Allele Identifier: CA2410935855
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581438_50581447delinsAGCCAGTGGG , CM000684.2:g.50581438_50581447delinsAGCCAGTGGG GRCh38
NC_000022.10:g.51019867_51019876delinsAGCCAGTGGG , CM000684.1:g.51019867_51019876delinsAGCCAGTGGG GRCh37
NC_000022.9:g.49366733_49366742delinsAGCCAGTGGG NCBI36
NG_012643.1:g.2221_2230delinsCCCACTGGCT
NG_029213.1:g.6553_6562delinsCCCACTGGCT , LRG_855:g.6553_6562delinsCCCACTGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.554_563delinsCCCACTGGCT (CHKB) MANE Select ENSP00000384400.3:p.Pro185=
ENST00000406938.2:c.554_563delinsCCCACTGGCT (CHKB) ENSP00000384400.2:p.Pro185=
ENST00000463053.1:n.703_712delinsCCCACTGGCT (CHKB)
ENST00000468532.5:n.431_440delinsCCCACTGGCT (CHKB)
ENST00000476289.5:n.827_836delinsCCCACTGGCT (CHKB)
ENST00000479003.5:n.1179_1188delinsCCCACTGGCT (CHKB)
ENST00000481673.5:n.1004_1013delinsCCCACTGGCT (CHKB)
ENST00000484266.5:n.577-787_577-778delinsCCCACTGGCT (CHKB)
ENST00000492556.5:n.1324_1333delinsCCCACTGGCT (CHKB-CPT1B)
ENST00000492582.5:n.1213_1222delinsCCCACTGGCT (CHKB)
NM_005198.4:c.554_563delinsCCCACTGGCT , LRG_855t1:c.554_563delinsCCCACTGGCT (CHKB) NP_005189.2:p.Pro185=
NR_027928.2:n.772_781delinsCCCACTGGCT (CHKB-CPT1B)
NM_005198.5:c.554_563delinsCCCACTGGCT (CHKB) MANE Select NP_005189.2:p.Pro185=