Canonical Allele Identifier: CA2410936371
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582388_50582392delinsGCGGC , CM000684.2:g.50582388_50582392delinsGCGGC GRCh38
NC_000022.10:g.51020817_51020821delinsGCGGC , CM000684.1:g.51020817_51020821delinsGCGGC GRCh37
NC_000022.9:g.49367683_49367687delinsGCGGC NCBI36
NG_012643.1:g.1276_1280delinsGCCGC
NG_029213.1:g.5608_5612delinsGCCGC , LRG_855:g.5608_5612delinsGCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-35_225-31delinsGCCGC (CHKB) MANE Select ENSP00000384400.3:n.225-35_225-31delinsGCCGC
ENST00000406938.2:c.225-35_225-31delinsGCCGC (CHKB) ENSP00000384400.2:n.225-35_225-31delinsGCCGC
ENST00000463053.1:n.307-35_307-31delinsGCCGC (CHKB)
ENST00000465842.1:n.29_33delinsGCCGC (CHKB)
ENST00000468532.5:n.67_71delinsGCCGC (CHKB)
ENST00000476289.5:n.463_467delinsGCCGC (CHKB)
ENST00000479003.5:n.429_433delinsGCCGC (CHKB)
ENST00000481673.5:n.289-35_289-31delinsGCCGC (CHKB)
ENST00000484266.5:n.433_437delinsGCCGC (CHKB)
ENST00000492556.5:n.574_578delinsGCCGC (CHKB-CPT1B)
ENST00000492582.5:n.463_467delinsGCCGC (CHKB)
NM_005198.4:c.225-35_225-31delinsGCCGC , LRG_855t1:c.225-35_225-31delinsGCCGC (CHKB) NP_005189.2:n.225-35_225-31delinsGCCGC
NR_027928.2:n.443-35_443-31delinsGCCGC (CHKB-CPT1B)
NM_005198.5:c.225-35_225-31delinsGCCGC (CHKB) MANE Select NP_005189.2:n.225-35_225-31delinsGCCGC