Canonical Allele Identifier: CA1026670241
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v3: 22-50578735-GGCGGCATCCCCACCTCAGGGTCGTCTTCATACCCCCATCACTC-G
gnomAD v4: 22-50578735-GGCGGCATCCCCACCTCAGGGTCGTCTTCATACCCCCATCACTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578736_50578778del , CM000684.2:g.50578736_50578778del GRCh38
NC_000022.10:g.51017165_51017207del , CM000684.1:g.51017165_51017207del GRCh37
NC_000022.9:g.49364031_49364073del NCBI36
NG_012643.1:g.4890_4932del
NG_029213.1:g.9222_9264del , LRG_855:g.9222_9264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-119_320-77del
ENST00000453634.5:c.329-119_329-77del ENSP00000457031.1:n.329-119_329-77del
ENST00000492556.5:n.2189+258_2189+300del
NR_027928.2:n.1551+258_1551+300del
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