Canonical Allele Identifier: CA1106738
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152311565del
GRCh37 chr1:g.152284041del
gnomAD v2:
1:152284040 CT / C
gnomAD v3:
1:152311564 CT / C
gnomAD v4:
chr1-152311564-CT-C
Joint Max Group AF 0.00711504 (EAS)
Genomes Max Group AF 0.00779415 (EAS)
Exomes Max Group AF 0.00680508 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311565del , CM000663.2:g.152311565del GRCh38
NC_000001.10:g.152284041del , CM000663.1:g.152284041del GRCh37
NC_000001.9:g.150550665del NCBI36
NG_016190.1:g.18639del , LRG_1028:g.18639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3321del MANE Select ENSP00000357789.1:p.Gly1109GlufsTer13
ENST00000368799.1:c.3321del ENSP00000357789.1:p.Gly1109GlufsTer13
NM_002016.1:c.3321del , LRG_1028t1:c.3321del NP_002007.1:p.Gly1109GlufsTer13
XM_011509329.1:c.3321del XP_011507631.1:p.Gly1109GlufsTer13
NM_002016.2:c.3321del MANE Select NP_002007.1:p.Gly1109GlufsTer13
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