Canonical Allele Identifier: CA526662126
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1453588652
gnomAD v2: 1-152277181-TC-T
gnomAD v3: 1-152304705-TC-T
gnomAD v4: 1-152304705-TC-T
MyVariant Identifiers: chr1:g.152277182del (hg19) chr1:g.152304706del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304706del , CM000663.2:g.152304706del GRCh38
NC_000001.10:g.152277182del , CM000663.1:g.152277182del GRCh37
NC_000001.9:g.150543806del NCBI36
NG_016190.1:g.25498del , LRG_1028:g.25498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10180del MANE Select ENSP00000357789.1:p.Glu3394AsnfsTer?
ENST00000368799.1:c.10180del ENSP00000357789.1:p.Glu3394AsnfsTer?
NM_002016.1:c.10180del , LRG_1028t1:c.10180del NP_002007.1:p.Glu3394AsnfsTer?
XM_011509329.1:c.9109-873del XP_011507631.1:n.9109-873del
NM_002016.2:c.10180del MANE Select NP_002007.1:p.Glu3394AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'