Canonical Allele Identifier: CA151422
Gene: ZP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127200
ClinVar RCV Id: RCV000115029
dbSNP Id: rs587777362
ExAC: 11:60640687 TCCATTTTC / T
gnomAD v2: 11-60640687-TCCATTTTC-T
gnomAD v4: 11-60873214-TCCATTTTC-T
MyVariant Identifiers: chr11:g.60640691_60640698del (hg19) chr11:g.60640688_60640695del (hg19) chr11:g.60873218_60873225del (hg38) chr11:g.60873215_60873222del (hg38)
PubMed: PMID:24670168
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.60873218_60873225del , CM000673.2:g.60873218_60873225del GRCh38
NC_000011.9:g.60640691_60640698del , CM000673.1:g.60640691_60640698del GRCh37
NC_000011.8:g.60397267_60397274del NCBI36
NG_034138.1:g.10677_10684del

Transcript Alleles

HGVS Amino-acid change
ENST00000278853.10:c.1169_1176del MANE Select ENSP00000278853.5:p.Ile390ThrfsTer16
ENST00000278853.9:c.1169_1176del ENSP00000278853.5:p.Ile390ThrfsTer16
ENST00000537203.5:n.788_795del
ENST00000542971.1:n.410_417del
ENST00000543020.1:n.94_101del
ENST00000620319.1:c.290_297del ENSP00000480463.1:p.Ile97ThrfsTer16
NM_207341.3:c.1169_1176del NP_997224.2:p.Ile390ThrfsTer16
XM_011544852.1:c.290_297del XP_011543154.1:p.Ile97ThrfsTer16
XM_011544853.1:c.290_297del XP_011543155.1:p.Ile97ThrfsTer16
XM_011544852.2:c.290_297del XP_011543154.1:p.Ile97ThrfsTer16
XM_011544853.2:c.290_297del XP_011543155.1:p.Ile97ThrfsTer16
NM_001391943.1:c.290_297del NP_001378872.1:p.Ile97ThrfsTer16
NM_001391944.1:c.-26_-19del NP_001378873.1:n.-26_-19del
NM_207341.4:c.1169_1176del MANE Select NP_997224.2:p.Ile390ThrfsTer16
Search 100 bp 5'
Search 100 bp 3'