Canonical Allele Identifier: CA2479949834
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308709_152308713delinsCACTG , CM000663.2:g.152308709_152308713delinsCACTG GRCh38
NC_000001.10:g.152281185_152281189delinsCACTG , CM000663.1:g.152281185_152281189delinsCACTG GRCh37
NC_000001.9:g.150547809_150547813delinsCACTG NCBI36
NG_016190.1:g.21491_21495delinsCAGTG , LRG_1028:g.21491_21495delinsCAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6173_6177delinsCAGTG MANE Select ENSP00000357789.1:p.Ser2058=
ENST00000368799.1:c.6173_6177delinsCAGTG ENSP00000357789.1:p.Ser2058=
NM_002016.1:c.6173_6177delinsCAGTG , LRG_1028t1:c.6173_6177delinsCAGTG NP_002007.1:p.Ser2058=
XM_011509329.1:c.6173_6177delinsCAGTG XP_011507631.1:p.Ser2058=
NM_002016.2:c.6173_6177delinsCAGTG MANE Select NP_002007.1:p.Ser2058=