Canonical Allele Identifier: CA2582343011
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152314010dup , CM000663.2:g.152314010dup GRCh38
NC_000001.10:g.152286486dup , CM000663.1:g.152286486dup GRCh37
NC_000001.9:g.150553110dup NCBI36
NG_016190.1:g.16194dup , LRG_1028:g.16194dup

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.876dup MANE Select ENSP00000357789.1:p.Arg293Ter
ENST00000368799.1:c.876dup ENSP00000357789.1:p.Arg293Ter
NM_002016.1:c.876dup , LRG_1028t1:c.876dup NP_002007.1:p.Arg293Ter
NR_103778.1:n.552dup
XM_011509329.1:c.876dup XP_011507631.1:p.Arg293Ter
NM_002016.2:c.876dup MANE Select NP_002007.1:p.Arg293Ter