Canonical Allele Identifier: CA10529268
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 573248
dbSNP Id: rs748325646

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566850_137566852del , CM000685.2:g.137566850_137566852del GRCh38
NC_000023.10:g.136649009_136649011del , CM000685.1:g.136649009_136649011del GRCh37
NC_000023.9:g.136476675_136476677del NCBI36
NG_008115.1:g.5664_5666del
NG_008115.2:g.5724_5726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.159_161del MANE Select ENSP00000287538.5:p.Ala54del
ENST00000287538.9:c.159_161del ENSP00000287538.5:p.Ala54del
ENST00000370606.3:c.159_161del ENSP00000359638.3:p.Ala54del
NM_003413.3:c.159_161del NP_003404.1:p.Ala54del
NM_001330661.1:c.159_161del NP_001317590.1:p.Ala54del
NM_003413.4:c.159_161del MANE Select NP_003404.1:p.Ala54del