Canonical Allele Identifier: CA2479951964
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312532_152312533delinsTC , CM000663.2:g.152312532_152312533delinsTC GRCh38
NC_000001.10:g.152285008_152285009delinsTC , CM000663.1:g.152285008_152285009delinsTC GRCh37
NC_000001.9:g.150551632_150551633delinsTC NCBI36
NG_016190.1:g.17671_17672delinsGA , LRG_1028:g.17671_17672delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2353_2354delinsGA MANE Select ENSP00000357789.1:p.Glu785=
ENST00000368799.1:c.2353_2354delinsGA ENSP00000357789.1:p.Glu785=
NM_002016.1:c.2353_2354delinsGA , LRG_1028t1:c.2353_2354delinsGA NP_002007.1:p.Glu785=
XM_011509329.1:c.2353_2354delinsGA XP_011507631.1:p.Glu785=
NM_002016.2:c.2353_2354delinsGA MANE Select NP_002007.1:p.Glu785=