Canonical Allele Identifier: CA900395461
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1309918672
gnomAD v3: 3-147413273-GGGCACTCGC-G
gnomAD v4: 3-147413273-GGGCACTCGC-G
MyVariant Identifiers: chr3:g.147131061_147131069del (hg19) chr3:g.147413274_147413282del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413277_147413285del , CM000665.2:g.147413277_147413285del GRCh38
NC_000003.11:g.147131064_147131072del , CM000665.1:g.147131064_147131072del GRCh37
NC_000003.10:g.148613754_148613762del NCBI36
NG_015886.1:g.8884_8892del

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1147-77_1147-69del MANE Select ENSP00000282928.4:n.1147-77_1147-69del
ENST00000282928.4:c.1147-77_1147-69del ENSP00000282928.4:n.1147-77_1147-69del
ENST00000472523.1:n.521+19335_521+19343del
ENST00000488404.5:c.213-77_213-69del
NM_003412.3:c.1147-77_1147-69del NP_003403.2:n.1147-77_1147-69del
NM_003412.4:c.1147-77_1147-69del MANE Select NP_003403.2:n.1147-77_1147-69del
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