Canonical Allele Identifier: CA10529277
Gene: ZIC3 HGNC NCBI

Linked Data

dbSNP Id: rs749955088
ExAC: X:136649009 CGCT / C
gnomAD v2: X-136649009-CGCT-C
gnomAD v3: X-137566850-CGCT-C
gnomAD v4: X-137566850-CGCT-C
MyVariant Identifiers: chrX:g.136649010_136649012del (hg19) chrX:g.137566851_137566853del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566853_137566855del , CM000685.2:g.137566853_137566855del GRCh38
NC_000023.10:g.136649012_136649014del , CM000685.1:g.136649012_136649014del GRCh37
NC_000023.9:g.136476678_136476680del NCBI36
NG_008115.1:g.5667_5669del
NG_008115.2:g.5727_5729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.162_164del MANE Select ENSP00000287538.5:p.Ala55del
ENST00000287538.9:c.162_164del ENSP00000287538.5:p.Ala55del
ENST00000370606.3:c.162_164del ENSP00000359638.3:p.Ala55del
NM_003413.3:c.162_164del NP_003404.1:p.Ala55del
NM_001330661.1:c.162_164del NP_001317590.1:p.Ala55del
NM_003413.4:c.162_164del MANE Select NP_003404.1:p.Ala55del
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