Canonical Allele Identifier: CA2479950140
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309191_152309192delinsGC , CM000663.2:g.152309191_152309192delinsGC GRCh38
NC_000001.10:g.152281667_152281668delinsGC , CM000663.1:g.152281667_152281668delinsGC GRCh37
NC_000001.9:g.150548291_150548292delinsGC NCBI36
NG_016190.1:g.21012_21013delinsGC , LRG_1028:g.21012_21013delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5694_5695delinsGC MANE Select ENSP00000357789.1:p.Ser1898=
ENST00000368799.1:c.5694_5695delinsGC ENSP00000357789.1:p.Ser1898=
NM_002016.1:c.5694_5695delinsGC , LRG_1028t1:c.5694_5695delinsGC NP_002007.1:p.Ser1898=
XM_011509329.1:c.5694_5695delinsGC XP_011507631.1:p.Ser1898=
NM_002016.2:c.5694_5695delinsGC MANE Select NP_002007.1:p.Ser1898=