Canonical Allele Identifier: CA2695237710
Gene: ZIC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567286_137567301del , CM000685.2:g.137567286_137567301del GRCh38
NC_000023.10:g.136649445_136649460del , CM000685.1:g.136649445_136649460del GRCh37
NC_000023.9:g.136477111_136477126del NCBI36
NG_008115.1:g.6100_6115del
NG_008115.2:g.6160_6175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.595_610del MANE Select ENSP00000287538.5:p.Tyr199AlafsTer19
ENST00000287538.9:c.595_610del ENSP00000287538.5:p.Tyr199AlafsTer19
ENST00000370606.3:c.595_610del ENSP00000359638.3:p.Tyr199AlafsTer19
NM_003413.3:c.595_610del NP_003404.1:p.Tyr199AlafsTer19
NM_001330661.1:c.595_610del NP_001317590.1:p.Tyr199AlafsTer19
NM_003413.4:c.595_610del MANE Select NP_003404.1:p.Tyr199AlafsTer19