Canonical Allele Identifier: CA526662197
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1557874635
gnomAD v2: 1-152280280-CG-C
gnomAD v4: 1-152307804-CG-C
MyVariant Identifiers: chr1:g.152280281del (hg19) chr1:g.152307805del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307806del , CM000663.2:g.152307806del GRCh38
NC_000001.10:g.152280282del , CM000663.1:g.152280282del GRCh37
NC_000001.9:g.150546906del NCBI36
NG_016190.1:g.22399del , LRG_1028:g.22399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7081del MANE Select ENSP00000357789.1:p.Arg2361GlufsTer?
ENST00000368799.1:c.7081del ENSP00000357789.1:p.Arg2361GlufsTer?
NM_002016.1:c.7081del , LRG_1028t1:c.7081del NP_002007.1:p.Arg2361GlufsTer?
XM_011509329.1:c.7081del XP_011507631.1:p.Arg2361GlufsTer?
NM_002016.2:c.7081del MANE Select NP_002007.1:p.Arg2361GlufsTer?
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