Canonical Allele Identifier: CA2479950079
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309086_152309087delinsAC , CM000663.2:g.152309086_152309087delinsAC GRCh38
NC_000001.10:g.152281562_152281563delinsAC , CM000663.1:g.152281562_152281563delinsAC GRCh37
NC_000001.9:g.150548186_150548187delinsAC NCBI36
NG_016190.1:g.21117_21118delinsGT , LRG_1028:g.21117_21118delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5799_5800delinsGT MANE Select ENSP00000357789.1:p.Arg1933=
ENST00000368799.1:c.5799_5800delinsGT ENSP00000357789.1:p.Arg1933=
NM_002016.1:c.5799_5800delinsGT , LRG_1028t1:c.5799_5800delinsGT NP_002007.1:p.Arg1933=
XM_011509329.1:c.5799_5800delinsGT XP_011507631.1:p.Arg1933=
NM_002016.2:c.5799_5800delinsGT MANE Select NP_002007.1:p.Arg1933=