Canonical Allele Identifier: CA2410935857

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070689026

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581442_50581452del , CM000684.2:g.50581442_50581452del	GRCh38
NC_000022.10:g.51019871_51019881del , CM000684.1:g.51019871_51019881del	GRCh37
NC_000022.9:g.49366737_49366747del	NCBI36
NG_012643.1:g.2218_2228del
NG_029213.1:g.6550_6560del , LRG_855:g.6550_6560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.551_561del (CHKB) MANE Select	ENSP00000384400.3:p.Glu184AlafsTer22
ENST00000406938.2:c.551_561del (CHKB)	ENSP00000384400.2:p.Glu184AlafsTer22
ENST00000463053.1:n.700_710del (CHKB)
ENST00000468532.5:n.428_438del (CHKB)
ENST00000476289.5:n.824_834del (CHKB)
ENST00000479003.5:n.1176_1186del (CHKB)
ENST00000481673.5:n.1001_1011del (CHKB)
ENST00000484266.5:n.577-790_577-780del (CHKB)
ENST00000492556.5:n.1321_1331del (CHKB-CPT1B)
ENST00000492582.5:n.1210_1220del (CHKB)
NM_005198.4:c.551_561del , LRG_855t1:c.551_561del (CHKB)	NP_005189.2:p.Glu184AlafsTer22
NR_027928.2:n.769_779del (CHKB-CPT1B)
NM_005198.5:c.551_561del (CHKB) MANE Select	NP_005189.2:p.Glu184AlafsTer22