Canonical Allele Identifier: CA2657580105

Gene: CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50578932-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578941_50578943del , CM000684.2:g.50578941_50578943del	GRCh38
NC_000022.10:g.51017370_51017372del , CM000684.1:g.51017370_51017372del	GRCh37
NC_000022.9:g.49364236_49364238del	NCBI36
NG_012643.1:g.4733_4735del
NG_029213.1:g.9065_9067del , LRG_855:g.9065_9067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452668.1:n.319+101_319+103del
ENST00000453634.5:c.328+101_328+103del	ENSP00000457031.1:n.328+101_328+103del
ENST00000492556.5:n.2189+101_2189+103del
NR_027928.2:n.1551+101_1551+103del