Canonical Allele Identifier: CA1107144
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs564976220
ExAC: 1:152284868 A / AGTGCCTGGAGTTGTCTC
gnomAD v2: 1-152284868-A-AGTGCCTGGAGTTGTCTC
gnomAD v3: 1-152312392-A-AGTGCCTGGAGTTGTCTC
gnomAD v4: 1-152312392-A-AGTGCCTGGAGTTGTCTC
MyVariant Identifiers: chr1:g.152284868_152284869insGTGCCTGGAGTTGTCTC (hg19) chr1:g.152312392_152312393insGTGCCTGGAGTTGTCTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312400_152312416dup , CM000663.2:g.152312400_152312416dup GRCh38
NC_000001.10:g.152284876_152284892dup , CM000663.1:g.152284876_152284892dup GRCh37
NC_000001.9:g.150551500_150551516dup NCBI36
NG_016190.1:g.17795_17811dup , LRG_1028:g.17795_17811dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2477_2493dup MANE Select ENSP00000357789.1:p.Ser832GlufsTer?
ENST00000368799.1:c.2477_2493dup ENSP00000357789.1:p.Ser832GlufsTer?
NM_002016.1:c.2477_2493dup , LRG_1028t1:c.2477_2493dup NP_002007.1:p.Ser832GlufsTer?
XM_011509329.1:c.2477_2493dup XP_011507631.1:p.Ser832GlufsTer?
NM_002016.2:c.2477_2493dup MANE Select NP_002007.1:p.Ser832GlufsTer?
Search 100 bp 5'
Search 100 bp 3'