Canonical Allele Identifier: CA2479949745

Gene: FLG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308640_152308642delinsTTC , CM000663.2:g.152308640_152308642delinsTTC	GRCh38
NC_000001.10:g.152281116_152281118delinsTTC , CM000663.1:g.152281116_152281118delinsTTC	GRCh37
NC_000001.9:g.150547740_150547742delinsTTC	NCBI36
NG_016190.1:g.21562_21564delinsGAA , LRG_1028:g.21562_21564delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6244_6246delinsGAA MANE Select	ENSP00000357789.1:p.Glu2082=
ENST00000368799.1:c.6244_6246delinsGAA	ENSP00000357789.1:p.Glu2082=
NM_002016.1:c.6244_6246delinsGAA , LRG_1028t1:c.6244_6246delinsGAA	NP_002007.1:p.Glu2082=
XM_011509329.1:c.6244_6246delinsGAA	XP_011507631.1:p.Glu2082=
NM_002016.2:c.6244_6246delinsGAA MANE Select	NP_002007.1:p.Glu2082=