Canonical Allele Identifier: CA1107165
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs753652391
ExAC: 1:152284916 C / CTCCA
gnomAD v2: 1-152284916-C-CTCCA
gnomAD v4: 1-152312440-C-CTCCA
MyVariant Identifiers: chr1:g.152284916_152284917insTCCA (hg19) chr1:g.152312440_152312441insTCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312441_152312444dup , CM000663.2:g.152312441_152312444dup GRCh38
NC_000001.10:g.152284917_152284920dup , CM000663.1:g.152284917_152284920dup GRCh37
NC_000001.9:g.150551541_150551544dup NCBI36
NG_016190.1:g.17760_17763dup , LRG_1028:g.17760_17763dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2442_2445dup MANE Select ENSP00000357789.1:p.Val816TrpfsTer9
ENST00000368799.1:c.2442_2445dup ENSP00000357789.1:p.Val816TrpfsTer9
NM_002016.1:c.2442_2445dup , LRG_1028t1:c.2442_2445dup NP_002007.1:p.Val816TrpfsTer9
XM_011509329.1:c.2442_2445dup XP_011507631.1:p.Val816TrpfsTer9
NM_002016.2:c.2442_2445dup MANE Select NP_002007.1:p.Val816TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'