Canonical Allele Identifier: CA2479950722
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310176_152310177delinsGC , CM000663.2:g.152310176_152310177delinsGC GRCh38
NC_000001.10:g.152282652_152282653delinsGC , CM000663.1:g.152282652_152282653delinsGC GRCh37
NC_000001.9:g.150549276_150549277delinsGC NCBI36
NG_016190.1:g.20027_20028delinsGC , LRG_1028:g.20027_20028delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4709_4710delinsGC MANE Select ENSP00000357789.1:p.Ser1570=
ENST00000368799.1:c.4709_4710delinsGC ENSP00000357789.1:p.Ser1570=
NM_002016.1:c.4709_4710delinsGC , LRG_1028t1:c.4709_4710delinsGC NP_002007.1:p.Ser1570=
XM_011509329.1:c.4709_4710delinsGC XP_011507631.1:p.Ser1570=
NM_002016.2:c.4709_4710delinsGC MANE Select NP_002007.1:p.Ser1570=