Canonical Allele Identifier: CA229356762

Gene: CEP164

Linked Data

• dbSNP Id: rs372299150
• gnomAD v3: 11-117317477-G-GACA
• gnomAD v4: 11-117317477-G-GACA
• MyVariant Identifiers: chr11:g.117188193_117188194insACA (hg19) ; chr11:g.117317477_117317478insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317488_117317490dup , CM000673.2:g.117317488_117317490dup	GRCh38
NC_000011.9:g.117188204_117188206dup , CM000673.1:g.117188204_117188206dup	GRCh37
NC_000011.8:g.116693414_116693416dup	NCBI36
NG_029372.1:g.3777_3779dup
NG_033032.1:g.711_713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2760_-98+2762dup	ENSP00000436609.1:n.-98+2760_-98+2762dup
XM_017017364.1:c.-98+955_-98+957dup	XP_016872853.1:n.-98+955_-98+957dup