Canonical Allele Identifier: CA1107702
Gene: FLG HGNC NCBI
ClinVar RCV:
RCV000490026
RCV003403135
ClinVar Variation:
426826
dbSNP:
761877421
gnomAD v2:
1:152286063 GTC / G
gnomAD v3:
1:152313587 GTC / G
gnomAD v4:
chr1-152313587-GTC-G
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
MyVariant.info:
GRCh38 chr1:g.152313588_152313589del
GRCh37 chr1:g.152286064_152286065del
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313589_152313590del , CM000663.2:g.152313589_152313590del GRCh38
NC_000001.10:g.152286065_152286066del , CM000663.1:g.152286065_152286066del GRCh37
NC_000001.9:g.150552689_150552690del NCBI36
NG_016190.1:g.16615_16616del , LRG_1028:g.16615_16616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.1297_1298del MANE Select ENSP00000357789.1:p.Asp433HisfsTer?
ENST00000368799.1:c.1297_1298del ENSP00000357789.1:p.Asp433HisfsTer?
NM_002016.1:c.1297_1298del , LRG_1028t1:c.1297_1298del NP_002007.1:p.Asp433HisfsTer?
NR_103778.1:n.131_132del
XM_011509329.1:c.1297_1298del XP_011507631.1:p.Asp433HisfsTer?
NM_002016.2:c.1297_1298del MANE Select NP_002007.1:p.Asp433HisfsTer?
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