Canonical Allele Identifier: CA2647993754
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152312347-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312351del , CM000663.2:g.152312351del GRCh38
NC_000001.10:g.152284827del , CM000663.1:g.152284827del GRCh37
NC_000001.9:g.150551451del NCBI36
NG_016190.1:g.17856del , LRG_1028:g.17856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2538del MANE Select ENSP00000357789.1:p.Ser847GlnfsTer15
ENST00000368799.1:c.2538del ENSP00000357789.1:p.Ser847GlnfsTer15
NM_002016.1:c.2538del , LRG_1028t1:c.2538del NP_002007.1:p.Ser847GlnfsTer15
XM_011509329.1:c.2538del XP_011507631.1:p.Ser847GlnfsTer15
NM_002016.2:c.2538del MANE Select NP_002007.1:p.Ser847GlnfsTer15
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