Canonical Allele Identifier: CA2479951870
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312345_152312346delinsTG , CM000663.2:g.152312345_152312346delinsTG GRCh38
NC_000001.10:g.152284821_152284822delinsTG , CM000663.1:g.152284821_152284822delinsTG GRCh37
NC_000001.9:g.150551445_150551446delinsTG NCBI36
NG_016190.1:g.17858_17859delinsCA , LRG_1028:g.17858_17859delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2540_2541delinsCA MANE Select ENSP00000357789.1:p.Ser847=
ENST00000368799.1:c.2540_2541delinsCA ENSP00000357789.1:p.Ser847=
NM_002016.1:c.2540_2541delinsCA , LRG_1028t1:c.2540_2541delinsCA NP_002007.1:p.Ser847=
XM_011509329.1:c.2540_2541delinsCA XP_011507631.1:p.Ser847=
NM_002016.2:c.2540_2541delinsCA MANE Select NP_002007.1:p.Ser847=