Canonical Allele Identifier: CA2647993596

Gene: FLG

Linked Data

• gnomAD v4: 1-152308637-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308638del , CM000663.2:g.152308638del	GRCh38
NC_000001.10:g.152281114del , CM000663.1:g.152281114del	GRCh37
NC_000001.9:g.150547738del	NCBI36
NG_016190.1:g.21566del , LRG_1028:g.21566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6248del MANE Select	ENSP00000357789.1:p.Ser2083ThrfsTer12
ENST00000368799.1:c.6248del	ENSP00000357789.1:p.Ser2083ThrfsTer12
NM_002016.1:c.6248del , LRG_1028t1:c.6248del	NP_002007.1:p.Ser2083ThrfsTer12
XM_011509329.1:c.6248del	XP_011507631.1:p.Ser2083ThrfsTer12
NM_002016.2:c.6248del MANE Select	NP_002007.1:p.Ser2083ThrfsTer12