Canonical Allele Identifier: CA2479949816
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308697_152308699delinsTCC , CM000663.2:g.152308697_152308699delinsTCC GRCh38
NC_000001.10:g.152281173_152281175delinsTCC , CM000663.1:g.152281173_152281175delinsTCC GRCh37
NC_000001.9:g.150547797_150547799delinsTCC NCBI36
NG_016190.1:g.21505_21507delinsGGA , LRG_1028:g.21505_21507delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6187_6189delinsGGA MANE Select ENSP00000357789.1:p.Gly2063=
ENST00000368799.1:c.6187_6189delinsGGA ENSP00000357789.1:p.Gly2063=
NM_002016.1:c.6187_6189delinsGGA , LRG_1028t1:c.6187_6189delinsGGA NP_002007.1:p.Gly2063=
XM_011509329.1:c.6187_6189delinsGGA XP_011507631.1:p.Gly2063=
NM_002016.2:c.6187_6189delinsGGA MANE Select NP_002007.1:p.Gly2063=