Canonical Allele Identifier: CA526662129

Gene: FLG

Linked Data

• dbSNP Id: rs1460987891
• gnomAD v2: 1-152276794-TGGCC-T
• gnomAD v3: 1-152304318-TGGCC-T
• gnomAD v4: 1-152304318-TGGCC-T
• MyVariant Identifiers: chr1:g.152276795_152276798del (hg19) ; chr1:g.152304319_152304322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304321_152304324del , CM000663.2:g.152304321_152304324del	GRCh38
NC_000001.10:g.152276797_152276800del , CM000663.1:g.152276797_152276800del	GRCh37
NC_000001.9:g.150543421_150543424del	NCBI36
NG_016190.1:g.25882_25885del , LRG_1028:g.25882_25885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.10564_10567del MANE Select	ENSP00000357789.1:p.Gly3522ArgfsTer?
ENST00000368799.1:c.10564_10567del	ENSP00000357789.1:p.Gly3522ArgfsTer?
NM_002016.1:c.10564_10567del , LRG_1028t1:c.10564_10567del	NP_002007.1:p.Gly3522ArgfsTer?
XM_011509329.1:c.9109-489_9109-486del	XP_011507631.1:n.9109-489_9109-486del
NM_002016.2:c.10564_10567del MANE Select	NP_002007.1:p.Gly3522ArgfsTer?