Canonical Allele Identifier: CA2668109465
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413362-ATCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413368_147413370del , CM000665.2:g.147413368_147413370del GRCh38
NC_000003.11:g.147131155_147131157del , CM000665.1:g.147131155_147131157del GRCh37
NC_000003.10:g.148613845_148613847del NCBI36
NG_015886.1:g.8975_8977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1161_1163del MANE Select ENSP00000282928.4:p.Ser388del
ENST00000282928.4:c.1161_1163del ENSP00000282928.4:p.Ser388del
ENST00000472523.1:n.521+19426_521+19428del
ENST00000488404.5:c.227_229del
NM_003412.3:c.1161_1163del NP_003403.2:p.Ser388del
NM_003412.4:c.1161_1163del MANE Select NP_003403.2:p.Ser388del
Search 100 bp 5'
Search 100 bp 3'