Canonical Allele Identifier: CA1103564

Gene: FLG

Linked Data

• ClinVar Variation Id: 1324414
• ClinVar RCV Id: RCV001781119
• dbSNP Id: rs746608568
• ExAC: 1:152277307 GTGTC / G
• gnomAD v2: 1-152277307-GTGTC-G
• gnomAD v3: 1-152304831-GTGTC-G
• gnomAD v4: 1-152304831-GTGTC-G
• COSMIC: COSM4603710
• MyVariant Identifiers: chr1:g.152277308_152277311del (hg19) ; chr1:g.152304832_152304835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304834_152304837del , CM000663.2:g.152304834_152304837del	GRCh38
NC_000001.10:g.152277310_152277313del , CM000663.1:g.152277310_152277313del	GRCh37
NC_000001.9:g.150543934_150543937del	NCBI36
NG_016190.1:g.25369_25372del , LRG_1028:g.25369_25372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.10051_10054del MANE Select	ENSP00000357789.1:p.Asp3351HisfsTer?
ENST00000368799.1:c.10051_10054del	ENSP00000357789.1:p.Asp3351HisfsTer?
NM_002016.1:c.10051_10054del , LRG_1028t1:c.10051_10054del	NP_002007.1:p.Asp3351HisfsTer?
XM_011509329.1:c.9108+943_9108+946del	XP_011507631.1:n.9108+943_9108+946del
NM_002016.2:c.10051_10054del MANE Select	NP_002007.1:p.Asp3351HisfsTer?