Canonical Allele Identifier: CA640358295

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1351116251
• gnomAD v2: 22-51020681-CAAG-C
• gnomAD v4: 22-50582252-CAAG-C
• MyVariant Identifiers: chr22:g.51020682_51020684del (hg19) ; chr22:g.50582253_50582255del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582254_50582256del , CM000684.2:g.50582254_50582256del	GRCh38
NC_000022.10:g.51020683_51020685del , CM000684.1:g.51020683_51020685del	GRCh37
NC_000022.9:g.49367549_49367551del	NCBI36
NG_012643.1:g.1413_1415del
NG_029213.1:g.5745_5747del , LRG_855:g.5745_5747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.327_329del (CHKB) MANE Select	ENSP00000384400.3:p.Ile109_Leu110delinsMet
ENST00000406938.2:c.327_329del (CHKB)	ENSP00000384400.2:p.Ile109_Leu110delinsMet
ENST00000463053.1:n.409_411del (CHKB)
ENST00000465842.1:n.166_168del (CHKB)
ENST00000468532.5:n.204_206del (CHKB)
ENST00000476289.5:n.600_602del (CHKB)
ENST00000479003.5:n.566_568del (CHKB)
ENST00000481673.5:n.391_393del (CHKB)
ENST00000484266.5:n.570_572del (CHKB)
ENST00000492556.5:n.711_713del (CHKB-CPT1B)
ENST00000492582.5:n.600_602del (CHKB)
NM_005198.4:c.327_329del , LRG_855t1:c.327_329del (CHKB)	NP_005189.2:p.Ile109_Leu110delinsMet
NR_027928.2:n.545_547del (CHKB-CPT1B)
NM_005198.5:c.327_329del (CHKB) MANE Select	NP_005189.2:p.Ile109_Leu110delinsMet