Canonical Allele Identifier: CA1026670238

Gene: CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070595804
• gnomAD v3: 22-50578730-C-CTCCG
• gnomAD v4: 22-50578730-C-CTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578731_50578734dup , CM000684.2:g.50578731_50578734dup	GRCh38
NC_000022.10:g.51017160_51017163dup , CM000684.1:g.51017160_51017163dup	GRCh37
NC_000022.9:g.49364026_49364029dup	NCBI36
NG_012643.1:g.4934_4937dup
NG_029213.1:g.9266_9269dup , LRG_855:g.9266_9269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452668.1:n.320-75_320-72dup
ENST00000453634.5:c.329-75_329-72dup	ENSP00000457031.1:n.329-75_329-72dup
ENST00000492556.5:n.2189+302_2189+305dup
NR_027928.2:n.1551+302_1551+305dup