Canonical Allele Identifier: CA2740092001

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 2975974
• ClinVar RCV Id: RCV003834060

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582357_50582358delinsAA , CM000684.2:g.50582357_50582358delinsAA	GRCh38
NC_000022.10:g.51020786_51020787delinsAA , CM000684.1:g.51020786_51020787delinsAA	GRCh37
NC_000022.9:g.49367652_49367653delinsAA	NCBI36
NG_012643.1:g.1310_1311delinsTT
NG_029213.1:g.5642_5643delinsTT , LRG_855:g.5642_5643delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-1_225delinsTT (CHKB)
ENST00000406938.2:c.225-1_225delinsTT (CHKB)
ENST00000463053.1:n.307-1_307delinsTT (CHKB)
ENST00000465842.1:n.63_64delinsTT (CHKB)
ENST00000468532.5:n.101_102delinsTT (CHKB)
ENST00000476289.5:n.497_498delinsTT (CHKB)
ENST00000479003.5:n.463_464delinsTT (CHKB)
ENST00000481673.5:n.289-1_289delinsTT (CHKB)
ENST00000484266.5:n.467_468delinsTT (CHKB)
ENST00000492556.5:n.608_609delinsTT (CHKB-CPT1B)
ENST00000492582.5:n.497_498delinsTT (CHKB)
NM_005198.4:c.225-1_225delinsTT , LRG_855t1:c.225-1_225delinsTT (CHKB)
NR_027928.2:n.443-1_443delinsTT (CHKB-CPT1B)
NM_005198.5:c.225-1_225delinsTT (CHKB)