Canonical Allele Identifier: CA2573904051
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311484_152311485insA , CM000663.2:g.152311484_152311485insA GRCh38
NC_000001.10:g.152283960_152283961insA , CM000663.1:g.152283960_152283961insA GRCh37
NC_000001.9:g.150550584_150550585insA NCBI36
NG_016190.1:g.18719_18720insT , LRG_1028:g.18719_18720insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3401_3402insT MANE Select ENSP00000357789.1:p.Arg1135GlnfsTer?
ENST00000368799.1:c.3401_3402insT ENSP00000357789.1:p.Arg1135GlnfsTer?
NM_002016.1:c.3401_3402insT , LRG_1028t1:c.3401_3402insT NP_002007.1:p.Arg1135GlnfsTer?
XM_011509329.1:c.3401_3402insT XP_011507631.1:p.Arg1135GlnfsTer?
NM_002016.2:c.3401_3402insT MANE Select NP_002007.1:p.Arg1135GlnfsTer?