Canonical Allele Identifier: CA2521058521
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311386_152311387insTC , CM000663.2:g.152311386_152311387insTC GRCh38
NC_000001.10:g.152283862_152283863insTC , CM000663.1:g.152283862_152283863insTC GRCh37
NC_000001.9:g.150550486_150550487insTC NCBI36
NG_016190.1:g.18817_18818insGA , LRG_1028:g.18817_18818insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3499_3500insGA MANE Select ENSP00000357789.1:p.Ala1167GlyfsTer20
ENST00000368799.1:c.3499_3500insGA ENSP00000357789.1:p.Ala1167GlyfsTer20
NM_002016.1:c.3499_3500insGA , LRG_1028t1:c.3499_3500insGA NP_002007.1:p.Ala1167GlyfsTer20
XM_011509329.1:c.3499_3500insGA XP_011507631.1:p.Ala1167GlyfsTer20
NM_002016.2:c.3499_3500insGA MANE Select NP_002007.1:p.Ala1167GlyfsTer20