Canonical Allele Identifier: CA2694828744
Gene: ZIC3 HGNC NCBI

Linked Data

gnomAD v4: X-137567361-A-ATGAACATGGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567367_137567378dup , CM000685.2:g.137567367_137567378dup GRCh38
NC_000023.10:g.136649526_136649537dup , CM000685.1:g.136649526_136649537dup GRCh37
NC_000023.9:g.136477192_136477203dup NCBI36
NG_008115.1:g.6181_6192dup
NG_008115.2:g.6241_6252dup

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.676_687dup MANE Select ENSP00000287538.5:p.Asn229_Val230insMetGlyValAsn
ENST00000287538.9:c.676_687dup ENSP00000287538.5:p.Asn229_Val230insMetGlyValAsn
ENST00000370606.3:c.676_687dup ENSP00000359638.3:p.Asn229_Val230insMetGlyValAsn
NM_003413.3:c.676_687dup NP_003404.1:p.Asn229_Val230insMetGlyValAsn
NM_001330661.1:c.676_687dup NP_001317590.1:p.Asn229_Val230insMetGlyValAsn
NM_003413.4:c.676_687dup MANE Select NP_003404.1:p.Asn229_Val230insMetGlyValAsn
Search 100 bp 5'
Search 100 bp 3'