Canonical Allele Identifier: CA526662240
Gene: FLG HGNC NCBI

Linked Data

gnomAD v2: 1-152281179-T-TGG
gnomAD v4: 1-152308703-T-TGG
MyVariant Identifiers: chr1:g.152281179_152281180insGG (hg19) chr1:g.152308703_152308704insGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308704_152308705insGG , CM000663.2:g.152308704_152308705insGG GRCh38
NC_000001.10:g.152281180_152281181insGG , CM000663.1:g.152281180_152281181insGG GRCh37
NC_000001.9:g.150547804_150547805insGG NCBI36
NG_016190.1:g.21500_21501insCC , LRG_1028:g.21500_21501insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6182_6183insCC MANE Select ENSP00000357789.1:p.Gln2062HisfsTer?
ENST00000368799.1:c.6182_6183insCC ENSP00000357789.1:p.Gln2062HisfsTer?
NM_002016.1:c.6182_6183insCC , LRG_1028t1:c.6182_6183insCC NP_002007.1:p.Gln2062HisfsTer?
XM_011509329.1:c.6182_6183insCC XP_011507631.1:p.Gln2062HisfsTer?
NM_002016.2:c.6182_6183insCC MANE Select NP_002007.1:p.Gln2062HisfsTer?
Search 100 bp 5'
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