Canonical Allele Identifier: CA754073614

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1176611261
• gnomAD v3: 22-50582388-GCGGC-G
• gnomAD v4: 22-50582388-GCGGC-G
• MyVariant Identifiers: chr22:g.51020818_51020821del (hg19) ; chr22:g.50582389_50582392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582394_50582397del , CM000684.2:g.50582394_50582397del	GRCh38
NC_000022.10:g.51020823_51020826del , CM000684.1:g.51020823_51020826del	GRCh37
NC_000022.9:g.49367689_49367692del	NCBI36
NG_012643.1:g.1276_1279del
NG_029213.1:g.5608_5611del , LRG_855:g.5608_5611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-35_225-32del (CHKB) MANE Select	ENSP00000384400.3:n.225-35_225-32del
ENST00000406938.2:c.225-35_225-32del (CHKB)	ENSP00000384400.2:n.225-35_225-32del
ENST00000463053.1:n.307-35_307-32del (CHKB)
ENST00000465842.1:n.29_32del (CHKB)
ENST00000468532.5:n.67_70del (CHKB)
ENST00000476289.5:n.463_466del (CHKB)
ENST00000479003.5:n.429_432del (CHKB)
ENST00000481673.5:n.289-35_289-32del (CHKB)
ENST00000484266.5:n.433_436del (CHKB)
ENST00000492556.5:n.574_577del (CHKB-CPT1B)
ENST00000492582.5:n.463_466del (CHKB)
NM_005198.4:c.225-35_225-32del , LRG_855t1:c.225-35_225-32del (CHKB)	NP_005189.2:n.225-35_225-32del
NR_027928.2:n.443-35_443-32del (CHKB-CPT1B)
NM_005198.5:c.225-35_225-32del (CHKB) MANE Select	NP_005189.2:n.225-35_225-32del