Canonical Allele Identifier: CA640054879

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1182913126
• gnomAD v2: 22-51019979-GACTCT-G
• gnomAD v3: 22-50581550-GACTCT-G
• gnomAD v4: 22-50581550-GACTCT-G
• MyVariant Identifiers: chr22:g.51019980_51019984del (hg19) ; chr22:g.50581551_50581555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581551_50581555del , CM000684.2:g.50581551_50581555del	GRCh38
NC_000022.10:g.51019980_51019984del , CM000684.1:g.51019980_51019984del	GRCh37
NC_000022.9:g.49366846_49366850del	NCBI36
NG_012643.1:g.2113_2117del
NG_029213.1:g.6445_6449del , LRG_855:g.6445_6449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.448-2_450del (CHKB)
ENST00000406938.2:c.448-2_450del (CHKB)
ENST00000463053.1:n.597-2_599del (CHKB)
ENST00000468532.5:n.325-2_327del (CHKB)
ENST00000476289.5:n.721-2_723del (CHKB)
ENST00000479003.5:n.1073-2_1075del (CHKB)
ENST00000481673.5:n.898-2_900del (CHKB)
ENST00000484266.5:n.576+694_576+698del (CHKB)
ENST00000492556.5:n.1218-2_1220del (CHKB-CPT1B)
ENST00000492582.5:n.1107-2_1109del (CHKB)
NM_005198.4:c.448-2_450del , LRG_855t1:c.448-2_450del (CHKB)
NR_027928.2:n.666-2_668del (CHKB-CPT1B)
NM_005198.5:c.448-2_450del (CHKB)