Canonical Allele Identifier: CA2647993757

Gene: FLG

Linked Data

• gnomAD v4: 1-152312437-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312437_152312438insC , CM000663.2:g.152312437_152312438insC	GRCh38
NC_000001.10:g.152284913_152284914insC , CM000663.1:g.152284913_152284914insC	GRCh37
NC_000001.9:g.150551537_150551538insC	NCBI36
NG_016190.1:g.17766_17767insG , LRG_1028:g.17766_17767insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2448_2449insG MANE Select	ENSP00000357789.1:p.Arg817GlufsTer7
ENST00000368799.1:c.2448_2449insG	ENSP00000357789.1:p.Arg817GlufsTer7
NM_002016.1:c.2448_2449insG , LRG_1028t1:c.2448_2449insG	NP_002007.1:p.Arg817GlufsTer7
XM_011509329.1:c.2448_2449insG	XP_011507631.1:p.Arg817GlufsTer7
NM_002016.2:c.2448_2449insG MANE Select	NP_002007.1:p.Arg817GlufsTer7