Canonical Allele Identifier: CA526662224

Gene: FLG

Linked Data

• dbSNP Id: rs1557876198
• gnomAD v2: 1-152281586-CCTGA-C
• gnomAD v4: 1-152309110-CCTGA-C
• MyVariant Identifiers: chr1:g.152281587_152281590del (hg19) ; chr1:g.152309111_152309114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152309114_152309117del , CM000663.2:g.152309114_152309117del	GRCh38
NC_000001.10:g.152281590_152281593del , CM000663.1:g.152281590_152281593del	GRCh37
NC_000001.9:g.150548214_150548217del	NCBI36
NG_016190.1:g.21090_21093del , LRG_1028:g.21090_21093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.5772_5775del MANE Select	ENSP00000357789.1:p.Ser1924ArgfsTer?
ENST00000368799.1:c.5772_5775del	ENSP00000357789.1:p.Ser1924ArgfsTer?
NM_002016.1:c.5772_5775del , LRG_1028t1:c.5772_5775del	NP_002007.1:p.Ser1924ArgfsTer?
XM_011509329.1:c.5772_5775del	XP_011507631.1:p.Ser1924ArgfsTer?
NM_002016.2:c.5772_5775del MANE Select	NP_002007.1:p.Ser1924ArgfsTer?