Canonical Allele Identifier: CA2410936333
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582331_50582332delinsCG , CM000684.2:g.50582331_50582332delinsCG GRCh38
NC_000022.10:g.51020760_51020761delinsCG , CM000684.1:g.51020760_51020761delinsCG GRCh37
NC_000022.9:g.49367626_49367627delinsCG NCBI36
NG_012643.1:g.1336_1337delinsCG
NG_029213.1:g.5668_5669delinsCG , LRG_855:g.5668_5669delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.250_251delinsCG (CHKB) MANE Select ENSP00000384400.3:p.Arg84=
ENST00000406938.2:c.250_251delinsCG (CHKB) ENSP00000384400.2:p.Arg84=
ENST00000463053.1:n.332_333delinsCG (CHKB)
ENST00000465842.1:n.89_90delinsCG (CHKB)
ENST00000468532.5:n.127_128delinsCG (CHKB)
ENST00000476289.5:n.523_524delinsCG (CHKB)
ENST00000479003.5:n.489_490delinsCG (CHKB)
ENST00000481673.5:n.314_315delinsCG (CHKB)
ENST00000484266.5:n.493_494delinsCG (CHKB)
ENST00000492556.5:n.634_635delinsCG (CHKB-CPT1B)
ENST00000492582.5:n.523_524delinsCG (CHKB)
NM_005198.4:c.250_251delinsCG , LRG_855t1:c.250_251delinsCG (CHKB) NP_005189.2:p.Arg84=
NR_027928.2:n.468_469delinsCG (CHKB-CPT1B)
NM_005198.5:c.250_251delinsCG (CHKB) MANE Select NP_005189.2:p.Arg84=