Canonical Allele Identifier: CA1054686988

Gene: ZIC1

Linked Data

• dbSNP Id: rs2087403277
• gnomAD v3: 3-147413625-GAA-G
• gnomAD v4: 3-147413625-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413626_147413627del , CM000665.2:g.147413626_147413627del	GRCh38
NC_000003.11:g.147131413_147131414del , CM000665.1:g.147131413_147131414del	GRCh37
NC_000003.10:g.148614103_148614104del	NCBI36
NG_015886.1:g.9233_9234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.*75_*76del MANE Select	ENSP00000282928.4:n.*75_*76del
ENST00000282928.4:c.*75_*76del	ENSP00000282928.4:n.*75_*76del
ENST00000472523.1:n.521+19684_521+19685del
ENST00000488404.5:c.485_486del
NM_003412.3:c.*75_*76del	NP_003403.2:n.*75_*76del
NM_003412.4:c.*75_*76del MANE Select	NP_003403.2:n.*75_*76del