Canonical Allele Identifier: CA2657584653
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582522del , CM000684.2:g.50582522del GRCh38
NC_000022.10:g.51020951del , CM000684.1:g.51020951del GRCh37
NC_000022.9:g.49367817del NCBI36
NG_012643.1:g.1146del
NG_029213.1:g.5478del , LRG_855:g.5478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+36del (CHKB) MANE Select ENSP00000384400.3:n.224+36del
ENST00000406938.2:c.224+36del (CHKB) ENSP00000384400.2:n.224+36del
ENST00000463053.1:n.307-165del (CHKB)
ENST00000476289.5:n.333del (CHKB)
ENST00000479003.5:n.299del (CHKB)
ENST00000481673.5:n.288+36del (CHKB)
ENST00000484266.5:n.303del (CHKB)
ENST00000492556.5:n.444del (CHKB-CPT1B)
ENST00000492582.5:n.333del (CHKB)
NM_005198.4:c.224+36del , LRG_855t1:c.224+36del (CHKB) NP_005189.2:n.224+36del
NR_027928.2:n.442+36del (CHKB-CPT1B)
NM_005198.5:c.224+36del (CHKB) MANE Select NP_005189.2:n.224+36del