Canonical Allele Identifier: CA1105344
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs749995949
ExAC: 1:152281116 TTC / T
gnomAD v2: 1-152281116-TTC-T
gnomAD v4: 1-152308640-TTC-T
MyVariant Identifiers: chr1:g.152281117_152281118del (hg19) chr1:g.152308641_152308642del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308641_152308642del , CM000663.2:g.152308641_152308642del GRCh38
NC_000001.10:g.152281117_152281118del , CM000663.1:g.152281117_152281118del GRCh37
NC_000001.9:g.150547741_150547742del NCBI36
NG_016190.1:g.21562_21563del , LRG_1028:g.21562_21563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6244_6245del MANE Select ENSP00000357789.1:p.Glu2082LysfsTer16
ENST00000368799.1:c.6244_6245del ENSP00000357789.1:p.Glu2082LysfsTer16
NM_002016.1:c.6244_6245del , LRG_1028t1:c.6244_6245del NP_002007.1:p.Glu2082LysfsTer16
XM_011509329.1:c.6244_6245del XP_011507631.1:p.Glu2082LysfsTer16
NM_002016.2:c.6244_6245del MANE Select NP_002007.1:p.Glu2082LysfsTer16
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