Canonical Allele Identifier: CA2647993597

Gene: FLG

Linked Data

• gnomAD v4: 1-152308641-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308645del , CM000663.2:g.152308645del	GRCh38
NC_000001.10:g.152281121del , CM000663.1:g.152281121del	GRCh37
NC_000001.9:g.150547745del	NCBI36
NG_016190.1:g.21562del , LRG_1028:g.21562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6244del MANE Select	ENSP00000357789.1:p.Glu2082LysfsTer13
ENST00000368799.1:c.6244del	ENSP00000357789.1:p.Glu2082LysfsTer13
NM_002016.1:c.6244del , LRG_1028t1:c.6244del	NP_002007.1:p.Glu2082LysfsTer13
XM_011509329.1:c.6244del	XP_011507631.1:p.Glu2082LysfsTer13
NM_002016.2:c.6244del MANE Select	NP_002007.1:p.Glu2082LysfsTer13