Canonical Allele Identifier: CA915941609
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 804366
ClinVar RCV Id: RCV000991343
dbSNP Id: rs1576470749
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413421_147413422insCACCATCGT , CM000665.2:g.147413421_147413422insCACCATCGT GRCh38
NC_000003.11:g.147131208_147131209insCACCATCGT , CM000665.1:g.147131208_147131209insCACCATCGT GRCh37
NC_000003.10:g.148613898_148613899insCACCATCGT NCBI36
NG_015886.1:g.9028_9029insCACCATCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1214_1215insCACCATCGT MANE Select ENSP00000282928.4:p.Thr405_Pro406insThrIleVal
ENST00000282928.4:c.1214_1215insCACCATCGT ENSP00000282928.4:p.Thr405_Pro406insThrIleVal
ENST00000472523.1:n.521+19479_521+19480insCACCATCGT
ENST00000488404.5:c.280_281insCACCATCGT
NM_003412.3:c.1214_1215insCACCATCGT NP_003403.2:p.Thr405_Pro406insThrIleVal
NM_003412.4:c.1214_1215insCACCATCGT MANE Select NP_003403.2:p.Thr405_Pro406insThrIleVal
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