Canonical Allele Identifier: CA546921931
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1235962233
gnomAD v2: 3-147131097-C-CACTGGCTCTTT
gnomAD v4: 3-147413310-C-CACTGGCTCTTT
MyVariant Identifiers: chr3:g.147131097_147131098insACTGGCTCTTT (hg19) chr3:g.147413310_147413311insACTGGCTCTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413312_147413322dup , CM000665.2:g.147413312_147413322dup GRCh38
NC_000003.11:g.147131099_147131109dup , CM000665.1:g.147131099_147131109dup GRCh37
NC_000003.10:g.148613789_148613799dup NCBI36
NG_015886.1:g.8919_8929dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1147-42_1147-32dup MANE Select ENSP00000282928.4:n.1147-42_1147-32dup
ENST00000282928.4:c.1147-42_1147-32dup ENSP00000282928.4:n.1147-42_1147-32dup
ENST00000472523.1:n.521+19370_521+19380dup
ENST00000488404.5:c.213-42_213-32dup
NM_003412.3:c.1147-42_1147-32dup NP_003403.2:n.1147-42_1147-32dup
NM_003412.4:c.1147-42_1147-32dup MANE Select NP_003403.2:n.1147-42_1147-32dup
Search 100 bp 5'
Search 100 bp 3'