Canonical Allele Identifier: CA10611372
Gene: CZIB HGNC NCBI

Linked Data

ClinVar Variation Id: 297611
ClinVar RCV Id: RCV000268466
dbSNP Id: rs886046411
gnomAD v2: 1-53679866-T-TGAA
gnomAD v3: 1-53214194-T-TGAA
gnomAD v4: 1-53214194-T-TGAA
MyVariant Identifiers: chr1:g.53679867_53679868insAAG (hg19) chr1:g.53679866_53679867insGAA (hg19) chr1:g.53214195_53214196insAAG (hg38) chr1:g.53214194_53214195insGAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53214197_53214199dup , CM000663.2:g.53214197_53214199dup GRCh38
NC_000001.10:g.53679869_53679871dup , CM000663.1:g.53679869_53679871dup GRCh37
NC_000001.9:g.53452457_53452459dup NCBI36
NG_008035.1:g.22769_22771dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000294360.5:c.*462_*464dup MANE Select ENSP00000294360.4:n.*462_*464dup
ENST00000294360.4:c.*462_*464dup ENSP00000294360.4:n.*462_*464dup
ENST00000483739.5:n.1852_1854dup
NM_001304759.1:c.*462_*464dup NP_001291688.1:n.*462_*464dup
NM_001304760.1:c.*462_*464dup NP_001291689.1:n.*462_*464dup
NM_017887.2:c.*462_*464dup NP_060357.1:n.*462_*464dup
NM_017887.3:c.*462_*464dup MANE Select NP_060357.1:n.*462_*464dup
NM_001304759.2:c.*462_*464dup NP_001291688.1:n.*462_*464dup
NM_001304760.2:c.*462_*464dup NP_001291689.1:n.*462_*464dup
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