Canonical Allele Identifier: CA2410936384
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582404_50582405delinsGC , CM000684.2:g.50582404_50582405delinsGC GRCh38
NC_000022.10:g.51020833_51020834delinsGC , CM000684.1:g.51020833_51020834delinsGC GRCh37
NC_000022.9:g.49367699_49367700delinsGC NCBI36
NG_012643.1:g.1263_1264delinsGC
NG_029213.1:g.5595_5596delinsGC , LRG_855:g.5595_5596delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-48_225-47delinsGC (CHKB) MANE Select ENSP00000384400.3:n.225-48_225-47delinsGC
ENST00000406938.2:c.225-48_225-47delinsGC (CHKB) ENSP00000384400.2:n.225-48_225-47delinsGC
ENST00000463053.1:n.307-48_307-47delinsGC (CHKB)
ENST00000465842.1:n.16_17delinsGC (CHKB)
ENST00000468532.5:n.54_55delinsGC (CHKB)
ENST00000476289.5:n.450_451delinsGC (CHKB)
ENST00000479003.5:n.416_417delinsGC (CHKB)
ENST00000481673.5:n.289-48_289-47delinsGC (CHKB)
ENST00000484266.5:n.420_421delinsGC (CHKB)
ENST00000492556.5:n.561_562delinsGC (CHKB-CPT1B)
ENST00000492582.5:n.450_451delinsGC (CHKB)
NM_005198.4:c.225-48_225-47delinsGC , LRG_855t1:c.225-48_225-47delinsGC (CHKB) NP_005189.2:n.225-48_225-47delinsGC
NR_027928.2:n.443-48_443-47delinsGC (CHKB-CPT1B)
NM_005198.5:c.225-48_225-47delinsGC (CHKB) MANE Select NP_005189.2:n.225-48_225-47delinsGC