Canonical Allele Identifier: CA229356758
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs372299150 rs2119656345 rs2119656360
gnomAD v2: 11-117188193-GACA-G
gnomAD v3: 11-117317477-GACA-G
gnomAD v4: 11-117317477-GACA-G
MyVariant Identifiers: chr11:g.117188194_117188196del (hg19) chr11:g.117317478_117317480del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317488_117317490del , CM000673.2:g.117317488_117317490del GRCh38
NC_000011.9:g.117188204_117188206del , CM000673.1:g.117188204_117188206del GRCh37
NC_000011.8:g.116693414_116693416del NCBI36
NG_029372.1:g.3777_3779del
NG_033032.1:g.711_713del

Transcript Alleles

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