Canonical Allele Identifier: CA2410936325

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070710787

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582322_50582323insTCATATTTTTGTTCT , CM000684.2:g.50582322_50582323insTCATATTTTTGTTCT	GRCh38
NC_000022.10:g.51020751_51020752insTCATATTTTTGTTCT , CM000684.1:g.51020751_51020752insTCATATTTTTGTTCT	GRCh37
NC_000022.9:g.49367617_49367618insTCATATTTTTGTTCT	NCBI36
NG_012643.1:g.1345_1346insAGAACAAAAATATGA
NG_029213.1:g.5677_5678insAGAACAAAAATATGA , LRG_855:g.5677_5678insAGAACAAAAATATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.259_260insAGAACAAAAATATGA (CHKB) MANE Select	ENSP00000384400.3:p.Leu87delinsGlnAsnLysAsnMetIle
ENST00000406938.2:c.259_260insAGAACAAAAATATGA (CHKB)	ENSP00000384400.2:p.Leu87delinsGlnAsnLysAsnMetIle
ENST00000463053.1:n.341_342insAGAACAAAAATATGA (CHKB)
ENST00000465842.1:n.98_99insAGAACAAAAATATGA (CHKB)
ENST00000468532.5:n.136_137insAGAACAAAAATATGA (CHKB)
ENST00000476289.5:n.532_533insAGAACAAAAATATGA (CHKB)
ENST00000479003.5:n.498_499insAGAACAAAAATATGA (CHKB)
ENST00000481673.5:n.323_324insAGAACAAAAATATGA (CHKB)
ENST00000484266.5:n.502_503insAGAACAAAAATATGA (CHKB)
ENST00000492556.5:n.643_644insAGAACAAAAATATGA (CHKB-CPT1B)
ENST00000492582.5:n.532_533insAGAACAAAAATATGA (CHKB)
NM_005198.4:c.259_260insAGAACAAAAATATGA , LRG_855t1:c.259_260insAGAACAAAAATATGA (CHKB)	NP_005189.2:p.Leu87delinsGlnAsnLysAsnMetIle
NR_027928.2:n.477_478insAGAACAAAAATATGA (CHKB-CPT1B)
NM_005198.5:c.259_260insAGAACAAAAATATGA (CHKB) MANE Select	NP_005189.2:p.Leu87delinsGlnAsnLysAsnMetIle