Canonical Allele Identifier: CA2819320500

Gene: CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578832_50578834del , CM000684.2:g.50578832_50578834del	GRCh38
NC_000022.10:g.51017261_51017263del , CM000684.1:g.51017261_51017263del	GRCh37
NC_000022.9:g.49364127_49364129del	NCBI36
NG_012643.1:g.4835_4837del
NG_029213.1:g.9167_9169del , LRG_855:g.9167_9169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452668.1:n.320-174_320-172del
ENST00000453634.5:c.329-174_329-172del	ENSP00000457031.1:n.329-174_329-172del
ENST00000492556.5:n.2189+203_2189+205del
NR_027928.2:n.1551+203_1551+205del