Canonical Allele Identifier: CA2657584001
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581990del , CM000684.2:g.50581990del GRCh38
NC_000022.10:g.51020419del , CM000684.1:g.51020419del GRCh37
NC_000022.9:g.49367285del NCBI36
NG_012643.1:g.1680del
NG_029213.1:g.6012del , LRG_855:g.6012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.334-126del (CHKB) MANE Select ENSP00000384400.3:n.334-126del
ENST00000406938.2:c.334-126del (CHKB) ENSP00000384400.2:n.334-126del
ENST00000463053.1:n.482+41del (CHKB)
ENST00000465842.1:n.173-126del (CHKB)
ENST00000468532.5:n.211-126del (CHKB)
ENST00000476289.5:n.607-126del (CHKB)
ENST00000479003.5:n.833del (CHKB)
ENST00000481673.5:n.658del (CHKB)
ENST00000484266.5:n.576+261del (CHKB)
ENST00000492556.5:n.978del (CHKB-CPT1B)
ENST00000492582.5:n.867del (CHKB)
NM_005198.4:c.334-126del , LRG_855t1:c.334-126del (CHKB) NP_005189.2:n.334-126del
NR_027928.2:n.552-126del (CHKB-CPT1B)
NM_005198.5:c.334-126del (CHKB) MANE Select NP_005189.2:n.334-126del