Canonical Allele Identifier: CA1103661

Gene: FLG

Linked Data

• ClinVar Variation Id: 817211
• ClinVar RCV Id: RCV001008323
• dbSNP Id: rs769826402
• ExAC: 1:152277543 TTGTC / T
• gnomAD v2: 1-152277543-TTGTC-T
• gnomAD v3: 1-152305067-TTGTC-T
• gnomAD v4: 1-152305067-TTGTC-T
• MyVariant Identifiers: chr1:g.152277544_152277547del (hg19) ; chr1:g.152305068_152305071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152305070_152305073del , CM000663.2:g.152305070_152305073del	GRCh38
NC_000001.10:g.152277546_152277549del , CM000663.1:g.152277546_152277549del	GRCh37
NC_000001.9:g.150544170_150544173del	NCBI36
NG_016190.1:g.25133_25136del , LRG_1028:g.25133_25136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.9815_9818del MANE Select	ENSP00000357789.1:p.Arg3272AsnfsTer?
ENST00000368799.1:c.9815_9818del	ENSP00000357789.1:p.Arg3272AsnfsTer?
NM_002016.1:c.9815_9818del , LRG_1028t1:c.9815_9818del	NP_002007.1:p.Arg3272AsnfsTer?
XM_011509329.1:c.9108+707_9108+710del	XP_011507631.1:n.9108+707_9108+710del
NM_002016.2:c.9815_9818del MANE Select	NP_002007.1:p.Arg3272AsnfsTer?