Canonical Allele Identifier: CA10529266
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 464970
ClinVar RCV Id: RCV000543613 RCV001509892 RCV003942794
dbSNP Id: rs748325646
ExAC: X:136648984 ACGCCGCCGC / A
gnomAD v2: X-136648984-ACGCCGCCGC-A
gnomAD v3: X-137566825-ACGCCGCCGC-A
gnomAD v4: X-137566825-ACGCCGCCGC-A
MyVariant Identifiers: chrX:g.136649003_136649011del (hg19) chrX:g.136648988_136648996del (hg19) chrX:g.136648985_136648993del (hg19) chrX:g.137566844_137566852del (hg38) chrX:g.137566829_137566837del (hg38) chrX:g.137566826_137566834del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566844_137566852del , CM000685.2:g.137566844_137566852del GRCh38
NC_000023.10:g.136649003_136649011del , CM000685.1:g.136649003_136649011del GRCh37
NC_000023.9:g.136476669_136476677del NCBI36
NG_008115.1:g.5658_5666del
NG_008115.2:g.5718_5726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.153_161del MANE Select ENSP00000287538.5:p.Ala52_Ala54del
ENST00000287538.9:c.153_161del ENSP00000287538.5:p.Ala52_Ala54del
ENST00000370606.3:c.153_161del ENSP00000359638.3:p.Ala52_Ala54del
NM_003413.3:c.153_161del NP_003404.1:p.Ala52_Ala54del
NM_001330661.1:c.153_161del NP_001317590.1:p.Ala52_Ala54del
NM_003413.4:c.153_161del MANE Select NP_003404.1:p.Ala52_Ala54del
Search 100 bp 5'
Search 100 bp 3'