Canonical Allele Identifier: CA7032581

Gene: ZIC5

Linked Data

• ClinVar Variation Id: 403621
• ClinVar RCV Id: RCV000455911 ; RCV000947538
• dbSNP Id: rs71114653
• ExAC: 13:100622667 TGGC / T
• gnomAD v2: 13-100622667-TGGC-T
• gnomAD v3: 13-99970413-TGGC-T
• gnomAD v4: 13-99970413-TGGC-T
• COSMIC: COSM404955 ; COSM5445836
• MyVariant Identifiers: chr13:g.100622686_100622688del (hg19) ; chr13:g.100622668_100622670del (hg19) ; chr13:g.99970432_99970434del (hg38) ; chr13:g.99970414_99970416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.99970447_99970449del , CM000675.2:g.99970447_99970449del	GRCh38
NC_000013.10:g.100622701_100622703del , CM000675.1:g.100622701_100622703del	GRCh37
NC_000013.9:g.99420702_99420704del	NCBI36
NG_053065.1:g.6509_6511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267294.5:c.1188_1190del MANE Select	ENSP00000267294.4:p.Pro397del
ENST00000267294.4:c.1260_1262del	ENSP00000267294.3:p.Pro421del
NM_033132.3:c.1260_1262del	NP_149123.2:p.Pro421del
NM_033132.4:c.1260_1262del	NP_149123.2:p.Pro421del
NR_146224.1:n.1494_1496del
NM_033132.5:c.1188_1190del MANE Select	NP_149123.3:p.Pro397del