Canonical Allele Identifier: CA10529267

Gene: ZIC3

Linked Data

• ClinVar Variation Id: 3047546
• ClinVar RCV Id: RCV003949504
• dbSNP Id: rs748325646
• ExAC: X:136648984 A / ACGCCGCCGC
• gnomAD v2: X-136648984-A-ACGCCGCCGC
• gnomAD v3: X-137566825-A-ACGCCGCCGC
• gnomAD v4: X-137566825-A-ACGCCGCCGC
• MyVariant Identifiers: chrX:g.136648996_136648997insCGCCGCCGC (hg19) ; chrX:g.136648993_136648994insCGCCGCCGC (hg19) ; chrX:g.136648984_136648985insCGCCGCCGC (hg19) ; chrX:g.137566837_137566838insCGCCGCCGC (hg38) ; chrX:g.137566825_137566826insCGCCGCCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137566844_137566852dup , CM000685.2:g.137566844_137566852dup	GRCh38
NC_000023.10:g.136649003_136649011dup , CM000685.1:g.136649003_136649011dup	GRCh37
NC_000023.9:g.136476669_136476677dup	NCBI36
NG_008115.1:g.5658_5666dup
NG_008115.2:g.5718_5726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.153_161dup MANE Select	ENSP00000287538.5:p.Ala54_Ala55insAlaAlaAla
ENST00000287538.9:c.153_161dup	ENSP00000287538.5:p.Ala54_Ala55insAlaAlaAla
ENST00000370606.3:c.153_161dup	ENSP00000359638.3:p.Ala54_Ala55insAlaAlaAla
NM_003413.3:c.153_161dup	NP_003404.1:p.Ala54_Ala55insAlaAlaAla
NM_001330661.1:c.153_161dup	NP_001317590.1:p.Ala54_Ala55insAlaAlaAla
NM_003413.4:c.153_161dup MANE Select	NP_003404.1:p.Ala54_Ala55insAlaAlaAla