Canonical Allele Identifier: CA1147109305
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312393_152312416delinsGTGCCTGGAGTTGTCTCGTGCCTG , CM000663.2:g.152312393_152312416delinsGTGCCTGGAGTTGTCTCGTGCCTG GRCh38
NC_000001.10:g.152284869_152284892delinsGTGCCTGGAGTTGTCTCGTGCCTG , CM000663.1:g.152284869_152284892delinsGTGCCTGGAGTTGTCTCGTGCCTG GRCh37
NC_000001.9:g.150551493_150551516delinsGTGCCTGGAGTTGTCTCGTGCCTG NCBI36
NG_016190.1:g.17788_17811delinsCAGGCACGAGACAACTCCAGGCAC , LRG_1028:g.17788_17811delinsCAGGCACGAGACAACTCCAGGCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC MANE Select ENSP00000357789.1:p.Gln824=
ENST00000368799.1:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC ENSP00000357789.1:p.Gln824=
NM_002016.1:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC , LRG_1028t1:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC NP_002007.1:p.Gln824=
XM_011509329.1:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC XP_011507631.1:p.Gln824=
NM_002016.2:c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC MANE Select NP_002007.1:p.Gln824=