Canonical Allele Identifier: CA2657228
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2722599
ClinVar RCV Id: RCV003558981
dbSNP Id: rs770195089
ExAC: 3:147131264 CCCT / C
gnomAD v2: 3-147131264-CCCT-C
gnomAD v3: 3-147413477-CCCT-C
gnomAD v4: 3-147413477-CCCT-C
MyVariant Identifiers: chr3:g.147131265_147131267del (hg19) chr3:g.147413478_147413480del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413486_147413488del , CM000665.2:g.147413486_147413488del GRCh38
NC_000003.11:g.147131273_147131275del , CM000665.1:g.147131273_147131275del GRCh37
NC_000003.10:g.148613963_148613965del NCBI36
NG_015886.1:g.9093_9095del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1279_1281del MANE Select ENSP00000282928.4:p.Ser427del
ENST00000282928.4:c.1279_1281del ENSP00000282928.4:p.Ser427del
ENST00000472523.1:n.521+19544_521+19546del
ENST00000488404.5:c.345_347del
NM_003412.3:c.1279_1281del NP_003403.2:p.Ser427del
NM_003412.4:c.1279_1281del MANE Select NP_003403.2:p.Ser427del
Search 100 bp 5'
Search 100 bp 3'