Canonical Allele Identifier: CA2479951939
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312491_152312497delinsTGCTCAC , CM000663.2:g.152312491_152312497delinsTGCTCAC GRCh38
NC_000001.10:g.152284967_152284973delinsTGCTCAC , CM000663.1:g.152284967_152284973delinsTGCTCAC GRCh37
NC_000001.9:g.150551591_150551597delinsTGCTCAC NCBI36
NG_016190.1:g.17707_17713delinsGTGAGCA , LRG_1028:g.17707_17713delinsGTGAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2389_2395delinsGTGAGCA MANE Select ENSP00000357789.1:p.Val797=
ENST00000368799.1:c.2389_2395delinsGTGAGCA ENSP00000357789.1:p.Val797=
NM_002016.1:c.2389_2395delinsGTGAGCA , LRG_1028t1:c.2389_2395delinsGTGAGCA NP_002007.1:p.Val797=
XM_011509329.1:c.2389_2395delinsGTGAGCA XP_011507631.1:p.Val797=
NM_002016.2:c.2389_2395delinsGTGAGCA MANE Select NP_002007.1:p.Val797=