Canonical Allele Identifier: CA16042301
Gene: FLG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372768
ClinVar RCV Id: RCV000414010
dbSNP Id: rs1057517973

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310883_152310884del , CM000663.2:g.152310883_152310884del GRCh38
NC_000001.10:g.152283359_152283360del , CM000663.1:g.152283359_152283360del GRCh37
NC_000001.9:g.150549983_150549984del NCBI36
NG_016190.1:g.19322_19323del , LRG_1028:g.19322_19323del

Transcript Alleles

HGVS Amino-acid change
NM_002016.1:c.4004_4005del , LRG_1028t1:c.4004_4005del NP_002007.1:p.Glu1335ValfsTer12
XM_011509329.1:c.4004_4005del XP_011507631.1:p.Glu1335ValfsTer12
ENST00000368799.1:c.4004_4005del ENSP00000357789.1:p.Glu1335ValfsTer12