Canonical Allele Identifier: CA2657579864

Gene: CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50578728-T-TGTAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578729_50578730insTAGAG , CM000684.2:g.50578729_50578730insTAGAG	GRCh38
NC_000022.10:g.51017158_51017159insTAGAG , CM000684.1:g.51017158_51017159insTAGAG	GRCh37
NC_000022.9:g.49364024_49364025insTAGAG	NCBI36
NG_012643.1:g.4939_4940insTCTAC
NG_029213.1:g.9271_9272insTCTAC , LRG_855:g.9271_9272insTCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452668.1:n.320-70_320-69insTCTAC
ENST00000453634.5:c.329-70_329-69insTCTAC	ENSP00000457031.1:n.329-70_329-69insTCTAC
ENST00000492556.5:n.2189+307_2189+308insTCTAC
NR_027928.2:n.1551+307_1551+308insTCTAC