Canonical Allele Identifier: CA2668109362
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413290-GCCTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413291_147413294del , CM000665.2:g.147413291_147413294del GRCh38
NC_000003.11:g.147131078_147131081del , CM000665.1:g.147131078_147131081del GRCh37
NC_000003.10:g.148613768_148613771del NCBI36
NG_015886.1:g.8898_8901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1147-63_1147-60del MANE Select ENSP00000282928.4:n.1147-63_1147-60del
ENST00000282928.4:c.1147-63_1147-60del ENSP00000282928.4:n.1147-63_1147-60del
ENST00000472523.1:n.521+19349_521+19352del
ENST00000488404.5:c.213-63_213-60del
NM_003412.3:c.1147-63_1147-60del NP_003403.2:n.1147-63_1147-60del
NM_003412.4:c.1147-63_1147-60del MANE Select NP_003403.2:n.1147-63_1147-60del
Search 100 bp 5'
Search 100 bp 3'