Canonical Allele Identifier: CA601838762
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1191395066 rs2133528588
gnomAD v2: 11-117187992-C-CT
gnomAD v3: 11-117317276-C-CT
gnomAD v4: 11-117317276-C-CT
MyVariant Identifiers: chr11:g.117187992_117187993insT (hg19) chr11:g.117317276_117317277insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317277dup , CM000673.2:g.117317277dup GRCh38
NC_000011.9:g.117187993dup , CM000673.1:g.117187993dup GRCh37
NC_000011.8:g.116693203dup NCBI36
NG_029372.1:g.3980dup
NG_033032.1:g.500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2549dup ENSP00000436609.1:n.-98+2549dup
XM_017017364.1:c.-98+744dup XP_016872853.1:n.-98+744dup
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