Canonical Allele Identifier: CA2574058022
Gene: FLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309147del , CM000663.2:g.152309147del GRCh38
NC_000001.10:g.152281623del , CM000663.1:g.152281623del GRCh37
NC_000001.9:g.150548247del NCBI36
NG_016190.1:g.21058del , LRG_1028:g.21058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5740del MANE Select ENSP00000357789.1:p.Gln1914ArgfsTer?
ENST00000368799.1:c.5740del ENSP00000357789.1:p.Gln1914ArgfsTer?
NM_002016.1:c.5740del , LRG_1028t1:c.5740del NP_002007.1:p.Gln1914ArgfsTer?
XM_011509329.1:c.5740del XP_011507631.1:p.Gln1914ArgfsTer?
NM_002016.2:c.5740del MANE Select NP_002007.1:p.Gln1914ArgfsTer?
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