Canonical Allele Identifier: CA10614520
Gene: CUL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 334604
ClinVar RCV Id: RCV000352000
dbSNP Id: rs572505388
gnomAD v2: 2-225336844-C-CA
gnomAD v3: 2-224472127-C-CA
gnomAD v4: 2-224472127-C-CA
MyVariant Identifiers: chr2:g.225336845dupA (hg19) chr2:g.225336844_225336845insA (hg19) chr2:g.224472128dupA (hg38) chr2:g.224472127_224472128insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224472129dup , CM000664.2:g.224472129dup GRCh38
NC_000002.11:g.225336846dup , CM000664.1:g.225336846dup GRCh37
NC_000002.10:g.225045090dup NCBI36
NG_032169.1:g.118270dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.*2117dup MANE Select ENSP00000264414.4:n.*2117dup
ENST00000264414.8:c.*2117dup ENSP00000264414.4:n.*2117dup
ENST00000344951.8:c.*2117dup ENSP00000343601.4:n.*2117dup
NM_001257197.1:c.*2117dup NP_001244126.1:n.*2117dup
NM_001257198.1:c.*2117dup NP_001244127.1:n.*2117dup
NM_003590.4:c.*2117dup NP_003581.1:n.*2117dup
NM_003590.5:c.*2117dup MANE Select NP_003581.1:n.*2117dup
NM_001257198.2:c.*2117dup NP_001244127.1:n.*2117dup
NM_001257197.2:c.*2117dup NP_001244126.1:n.*2117dup
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