Canonical Allele Identifier: CA2657579895

Gene: CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50578752-AGGGTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578753_50578758del , CM000684.2:g.50578753_50578758del	GRCh38
NC_000022.10:g.51017182_51017187del , CM000684.1:g.51017182_51017187del	GRCh37
NC_000022.9:g.49364048_49364053del	NCBI36
NG_012643.1:g.4910_4915del
NG_029213.1:g.9242_9247del , LRG_855:g.9242_9247del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452668.1:n.320-99_320-94del
ENST00000453634.5:c.329-99_329-94del	ENSP00000457031.1:n.329-99_329-94del
ENST00000492556.5:n.2189+278_2189+283del
NR_027928.2:n.1551+278_1551+283del