Canonical Allele Identifier: CA2657584017
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582011del , CM000684.2:g.50582011del GRCh38
NC_000022.10:g.51020440del , CM000684.1:g.51020440del GRCh37
NC_000022.9:g.49367306del NCBI36
NG_012643.1:g.1659del
NG_029213.1:g.5991del , LRG_855:g.5991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.334-147del (CHKB) MANE Select ENSP00000384400.3:n.334-147del
ENST00000406938.2:c.334-147del (CHKB) ENSP00000384400.2:n.334-147del
ENST00000463053.1:n.482+20del (CHKB)
ENST00000465842.1:n.173-147del (CHKB)
ENST00000468532.5:n.211-147del (CHKB)
ENST00000476289.5:n.607-147del (CHKB)
ENST00000479003.5:n.812del (CHKB)
ENST00000481673.5:n.637del (CHKB)
ENST00000484266.5:n.576+240del (CHKB)
ENST00000492556.5:n.957del (CHKB-CPT1B)
ENST00000492582.5:n.846del (CHKB)
NM_005198.4:c.334-147del , LRG_855t1:c.334-147del (CHKB) NP_005189.2:n.334-147del
NR_027928.2:n.552-147del (CHKB-CPT1B)
NM_005198.5:c.334-147del (CHKB) MANE Select NP_005189.2:n.334-147del