Canonical Allele Identifier: CA1106654
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs766958359
ExAC: 1:152283869 TG / T
gnomAD v2: 1-152283869-TG-T
gnomAD v4: 1-152311393-TG-T
MyVariant Identifiers: chr1:g.152283870del (hg19) chr1:g.152311394del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311395del , CM000663.2:g.152311395del GRCh38
NC_000001.10:g.152283871del , CM000663.1:g.152283871del GRCh37
NC_000001.9:g.150550495del NCBI36
NG_016190.1:g.18810del , LRG_1028:g.18810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3492del MANE Select ENSP00000357789.1:p.Ile1165PhefsTer21
ENST00000368799.1:c.3492del ENSP00000357789.1:p.Ile1165PhefsTer21
NM_002016.1:c.3492del , LRG_1028t1:c.3492del NP_002007.1:p.Ile1165PhefsTer21
XM_011509329.1:c.3492del XP_011507631.1:p.Ile1165PhefsTer21
NM_002016.2:c.3492del MANE Select NP_002007.1:p.Ile1165PhefsTer21
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