Canonical Allele Identifier: CA2647993644

Gene: FLG

Linked Data

• gnomAD v4: 1-152311309-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311312del , CM000663.2:g.152311312del	GRCh38
NC_000001.10:g.152283788del , CM000663.1:g.152283788del	GRCh37
NC_000001.9:g.150550412del	NCBI36
NG_016190.1:g.18894del , LRG_1028:g.18894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3576del MANE Select	ENSP00000357789.1:p.Ser1193ProfsTer?
ENST00000368799.1:c.3576del	ENSP00000357789.1:p.Ser1193ProfsTer?
NM_002016.1:c.3576del , LRG_1028t1:c.3576del	NP_002007.1:p.Ser1193ProfsTer?
XM_011509329.1:c.3576del	XP_011507631.1:p.Ser1193ProfsTer?
NM_002016.2:c.3576del MANE Select	NP_002007.1:p.Ser1193ProfsTer?