Canonical Allele Identifier: CA1104843
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs776770564
ExAC: 1:152280141 C / CG
gnomAD v2: 1-152280141-C-CG
gnomAD v4: 1-152307665-C-CG
MyVariant Identifiers: chr1:g.152280141_152280142insG (hg19) chr1:g.152307665_152307666insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307665_152307666insG , CM000663.2:g.152307665_152307666insG GRCh38
NC_000001.10:g.152280141_152280142insG , CM000663.1:g.152280141_152280142insG GRCh37
NC_000001.9:g.150546765_150546766insG NCBI36
NG_016190.1:g.22538_22539insC , LRG_1028:g.22538_22539insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7220_7221insC MANE Select ENSP00000357789.1:p.Arg2407SerfsTer16
ENST00000368799.1:c.7220_7221insC ENSP00000357789.1:p.Arg2407SerfsTer16
NM_002016.1:c.7220_7221insC , LRG_1028t1:c.7220_7221insC NP_002007.1:p.Arg2407SerfsTer16
XM_011509329.1:c.7220_7221insC XP_011507631.1:p.Arg2407SerfsTer16
NM_002016.2:c.7220_7221insC MANE Select NP_002007.1:p.Arg2407SerfsTer16
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