Canonical Allele Identifier: CA2746124218
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309161_152309172del , CM000663.2:g.152309161_152309172del GRCh38
NC_000001.10:g.152281637_152281648del , CM000663.1:g.152281637_152281648del GRCh37
NC_000001.9:g.150548261_150548272del NCBI36
NG_016190.1:g.21032_21043del , LRG_1028:g.21032_21043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5714_5725del MANE Select ENSP00000357789.1:p.Ser1905_Arg1909delinsTrp
ENST00000368799.1:c.5714_5725del ENSP00000357789.1:p.Ser1905_Arg1909delinsTrp
NM_002016.1:c.5714_5725del , LRG_1028t1:c.5714_5725del NP_002007.1:p.Ser1905_Arg1909delinsTrp
XM_011509329.1:c.5714_5725del XP_011507631.1:p.Ser1905_Arg1909delinsTrp
NM_002016.2:c.5714_5725del MANE Select NP_002007.1:p.Ser1905_Arg1909delinsTrp