Canonical Allele Identifier: CA2479951963
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312531_152312533delinsTTC , CM000663.2:g.152312531_152312533delinsTTC GRCh38
NC_000001.10:g.152285007_152285009delinsTTC , CM000663.1:g.152285007_152285009delinsTTC GRCh37
NC_000001.9:g.150551631_150551633delinsTTC NCBI36
NG_016190.1:g.17671_17673delinsGAA , LRG_1028:g.17671_17673delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2353_2355delinsGAA MANE Select ENSP00000357789.1:p.Glu785=
ENST00000368799.1:c.2353_2355delinsGAA ENSP00000357789.1:p.Glu785=
NM_002016.1:c.2353_2355delinsGAA , LRG_1028t1:c.2353_2355delinsGAA NP_002007.1:p.Glu785=
XM_011509329.1:c.2353_2355delinsGAA XP_011507631.1:p.Glu785=
NM_002016.2:c.2353_2355delinsGAA MANE Select NP_002007.1:p.Glu785=