Canonical Allele Identifier: CA16616976
Gene: FLG HGNC NCBI
ClinVar RCV:
RCV000484378
ClinVar Variation:
423169
dbSNP:
1064796274
gnomAD v4:
chr1-152311979-GT-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr1:g.152311980del
GRCh37 chr1:g.152284456del
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311982del , CM000663.2:g.152311982del GRCh38
NC_000001.10:g.152284458del , CM000663.1:g.152284458del GRCh37
NC_000001.9:g.150551082del NCBI36
NG_016190.1:g.18224del , LRG_1028:g.18224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2906del MANE Select ENSP00000357789.1:p.Asn969ThrfsTer?
ENST00000368799.1:c.2906del ENSP00000357789.1:p.Asn969ThrfsTer?
NM_002016.1:c.2906del , LRG_1028t1:c.2906del NP_002007.1:p.Asn969ThrfsTer?
XM_011509329.1:c.2906del XP_011507631.1:p.Asn969ThrfsTer?
NM_002016.2:c.2906del MANE Select NP_002007.1:p.Asn969ThrfsTer?
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