Canonical Allele Identifier: CA2410936328

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070711017

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582324_50582325insAGGGTCAACTGCAGAACTT , CM000684.2:g.50582324_50582325insAGGGTCAACTGCAGAACTT	GRCh38
NC_000022.10:g.51020753_51020754insAGGGTCAACTGCAGAACTT , CM000684.1:g.51020753_51020754insAGGGTCAACTGCAGAACTT	GRCh37
NC_000022.9:g.49367619_49367620insAGGGTCAACTGCAGAACTT	NCBI36
NG_012643.1:g.1343_1344insAAGTTCTGCAGTTGACCCT
NG_029213.1:g.5675_5676insAAGTTCTGCAGTTGACCCT , LRG_855:g.5675_5676insAAGTTCTGCAGTTGACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.257_258insAAGTTCTGCAGTTGACCCT (CHKB) MANE Select	ENSP00000384400.3:p.Leu87SerfsTer?
ENST00000406938.2:c.257_258insAAGTTCTGCAGTTGACCCT (CHKB)	ENSP00000384400.2:p.Leu87SerfsTer?
ENST00000463053.1:n.339_340insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000465842.1:n.96_97insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000468532.5:n.134_135insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000476289.5:n.530_531insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000479003.5:n.496_497insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000481673.5:n.321_322insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000484266.5:n.500_501insAAGTTCTGCAGTTGACCCT (CHKB)
ENST00000492556.5:n.641_642insAAGTTCTGCAGTTGACCCT (CHKB-CPT1B)
ENST00000492582.5:n.530_531insAAGTTCTGCAGTTGACCCT (CHKB)
NM_005198.4:c.257_258insAAGTTCTGCAGTTGACCCT , LRG_855t1:c.257_258insAAGTTCTGCAGTTGACCCT (CHKB)	NP_005189.2:p.Leu87SerfsTer?
NR_027928.2:n.475_476insAAGTTCTGCAGTTGACCCT (CHKB-CPT1B)
NM_005198.5:c.257_258insAAGTTCTGCAGTTGACCCT (CHKB) MANE Select	NP_005189.2:p.Leu87SerfsTer?