Canonical Allele Identifier: CA1105601
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs761355713
ExAC: 1:152281601 CCTGG / C
gnomAD v2: 1-152281601-CCTGG-C
gnomAD v3: 1-152309125-CCTGG-C
gnomAD v4: 1-152309125-CCTGG-C
MyVariant Identifiers: chr1:g.152281602_152281605del (hg19) chr1:g.152309126_152309129del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309128_152309131del , CM000663.2:g.152309128_152309131del GRCh38
NC_000001.10:g.152281604_152281607del , CM000663.1:g.152281604_152281607del GRCh37
NC_000001.9:g.150548228_150548231del NCBI36
NG_016190.1:g.21075_21078del , LRG_1028:g.21075_21078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5757_5760del MANE Select ENSP00000357789.1:p.Ser1919ArgfsTer?
ENST00000368799.1:c.5757_5760del ENSP00000357789.1:p.Ser1919ArgfsTer?
NM_002016.1:c.5757_5760del , LRG_1028t1:c.5757_5760del NP_002007.1:p.Ser1919ArgfsTer?
XM_011509329.1:c.5757_5760del XP_011507631.1:p.Ser1919ArgfsTer?
NM_002016.2:c.5757_5760del MANE Select NP_002007.1:p.Ser1919ArgfsTer?
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