Canonical Allele Identifier: CA526662248
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1237217711
gnomAD v2: 1-152282968-CT-C
gnomAD v4: 1-152310492-CT-C
MyVariant Identifiers: chr1:g.152282969del (hg19) chr1:g.152310493del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310494del , CM000663.2:g.152310494del GRCh38
NC_000001.10:g.152282970del , CM000663.1:g.152282970del GRCh37
NC_000001.9:g.150549594del NCBI36
NG_016190.1:g.19711del , LRG_1028:g.19711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4393del MANE Select ENSP00000357789.1:p.Arg1465AspfsTer?
ENST00000368799.1:c.4393del ENSP00000357789.1:p.Arg1465AspfsTer?
NM_002016.1:c.4393del , LRG_1028t1:c.4393del NP_002007.1:p.Arg1465AspfsTer?
XM_011509329.1:c.4393del XP_011507631.1:p.Arg1465AspfsTer?
NM_002016.2:c.4393del MANE Select NP_002007.1:p.Arg1465AspfsTer?
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