Canonical Allele Identifier: CA2410936519
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582552_50582553delinsTC , CM000684.2:g.50582552_50582553delinsTC GRCh38
NC_000022.10:g.51020981_51020982delinsTC , CM000684.1:g.51020981_51020982delinsTC GRCh37
NC_000022.9:g.49367847_49367848delinsTC NCBI36
NG_012643.1:g.1115_1116delinsGA
NG_029213.1:g.5447_5448delinsGA , LRG_855:g.5447_5448delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+5_224+6delinsGA (CHKB) MANE Select ENSP00000384400.3:n.224+5_224+6delinsGA
ENST00000406938.2:c.224+5_224+6delinsGA (CHKB) ENSP00000384400.2:n.224+5_224+6delinsGA
ENST00000463053.1:n.307-196_307-195delinsGA (CHKB)
ENST00000476289.5:n.302_303delinsGA (CHKB)
ENST00000479003.5:n.268_269delinsGA (CHKB)
ENST00000481673.5:n.288+5_288+6delinsGA (CHKB)
ENST00000484266.5:n.272_273delinsGA (CHKB)
ENST00000492556.5:n.413_414delinsGA (CHKB-CPT1B)
ENST00000492582.5:n.302_303delinsGA (CHKB)
NM_005198.4:c.224+5_224+6delinsGA , LRG_855t1:c.224+5_224+6delinsGA (CHKB) NP_005189.2:n.224+5_224+6delinsGA
NR_027928.2:n.442+5_442+6delinsGA (CHKB-CPT1B)
NM_005198.5:c.224+5_224+6delinsGA (CHKB) MANE Select NP_005189.2:n.224+5_224+6delinsGA