Canonical Allele Identifier: CA2410936149
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582030_50582032delinsATG , CM000684.2:g.50582030_50582032delinsATG GRCh38
NC_000022.10:g.51020459_51020461delinsATG , CM000684.1:g.51020459_51020461delinsATG GRCh37
NC_000022.9:g.49367325_49367327delinsATG NCBI36
NG_012643.1:g.1636_1638delinsCAT
NG_029213.1:g.5968_5970delinsCAT , LRG_855:g.5968_5970delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.334-170_334-168delinsCAT (CHKB) MANE Select ENSP00000384400.3:n.334-170_334-168delinsCAT
ENST00000406938.2:c.334-170_334-168delinsCAT (CHKB) ENSP00000384400.2:n.334-170_334-168delinsCAT
ENST00000463053.1:n.479_481delinsCAT (CHKB)
ENST00000465842.1:n.173-170_173-168delinsCAT (CHKB)
ENST00000468532.5:n.211-170_211-168delinsCAT (CHKB)
ENST00000476289.5:n.607-170_607-168delinsCAT (CHKB)
ENST00000479003.5:n.789_791delinsCAT (CHKB)
ENST00000481673.5:n.614_616delinsCAT (CHKB)
ENST00000484266.5:n.576+217_576+219delinsCAT (CHKB)
ENST00000492556.5:n.934_936delinsCAT (CHKB-CPT1B)
ENST00000492582.5:n.823_825delinsCAT (CHKB)
NM_005198.4:c.334-170_334-168delinsCAT , LRG_855t1:c.334-170_334-168delinsCAT (CHKB) NP_005189.2:n.334-170_334-168delinsCAT
NR_027928.2:n.552-170_552-168delinsCAT (CHKB-CPT1B)
NM_005198.5:c.334-170_334-168delinsCAT (CHKB) MANE Select NP_005189.2:n.334-170_334-168delinsCAT