Canonical Allele Identifier: CA2657584367
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582232_50582233del , CM000684.2:g.50582232_50582233del GRCh38
NC_000022.10:g.51020661_51020662del , CM000684.1:g.51020661_51020662del GRCh37
NC_000022.9:g.49367527_49367528del NCBI36
NG_012643.1:g.1437_1438del
NG_029213.1:g.5769_5770del , LRG_855:g.5769_5770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.333+18_333+19del (CHKB) MANE Select ENSP00000384400.3:n.333+18_333+19del
ENST00000406938.2:c.333+18_333+19del (CHKB) ENSP00000384400.2:n.333+18_333+19del
ENST00000463053.1:n.415+18_415+19del (CHKB)
ENST00000465842.1:n.172+18_172+19del (CHKB)
ENST00000468532.5:n.210+18_210+19del (CHKB)
ENST00000476289.5:n.606+18_606+19del (CHKB)
ENST00000479003.5:n.590_591del (CHKB)
ENST00000481673.5:n.415_416del (CHKB)
ENST00000484266.5:n.576+18_576+19del (CHKB)
ENST00000492556.5:n.735_736del (CHKB-CPT1B)
ENST00000492582.5:n.624_625del (CHKB)
NM_005198.4:c.333+18_333+19del , LRG_855t1:c.333+18_333+19del (CHKB) NP_005189.2:n.333+18_333+19del
NR_027928.2:n.551+18_551+19del (CHKB-CPT1B)
NM_005198.5:c.333+18_333+19del (CHKB) MANE Select NP_005189.2:n.333+18_333+19del